OVERDUE FINES ARE 25¢ VER DAY PER ITEM Return to book dro this checkout from p to remove your record. I ABSTRACT FINGERPRINT PATTERNS IN IDIOPATHIC MENTAL RETARDATION By Terry Jon Hassold FingerprinT paTTerns from I463 Caucasian conTrol individuals (733 males, 730 females) and 868 non—specific menTally reTarded individuals (537 males, 33| females) were examined To defermine: I. if differences wiTh respecT To fingerprinT paTTerns exisTed beTween The Two groups and 2. if suCh differences mighT be used To uncover previously undeTecTed menTal reTardaTion syndromes. FingerprinTs were analyzed separaTely by sex and, for The reTarded group, were subdivided on The basis of severiTy of reTardaTion. The fingerprinTs of The conTrol and reTarded gr0ups were compared wifh respecT To ToTal finger ridge counT, paTTern inTensiTy, frequency disTribuTion of The four digiTal paTTerns, and Ten-finger paTTerns. ReTarded individuals of boTh sexes showed an increased frequency of arches. AddiTionally, among The reTarded males, There was an overall decrease in The frequency of whorls; among The reTarded females, There was an increase in whorls and a decrease in ulnar loops. ExaminaTion of Ten-finger paTTerns led To The deTecTion of IS Terry Jon Hassold caTegories of such paTTerns in excess among menfally reTarded indi- viduals of eiTher or boTh sexes. ForTy-seven individuals from Two of These caTegories (i.e., arches or radial loops on digiT I) were furTher evaluaTed for possible similariTies indicaTive of a menTal reTardaTion syndrome. Among These individuals, higher Than expecTed frequencies of crypTorchidism (28.6% of The males) and auTosomal chromosome abnormaliTies (8.5%) were noTed. Two of The individuals wiTh chromosome abnormaliTies had cyTogeneTic and clinical simi- lariTies consisTenT wiTh ThaT of a chromosomal syndrome. FINGERPRINT PATTERNS IN IDIOPATHIC MENTAL RETARDATION By Terry Jon Hassold A THESIS SubmiTTed To Michigan STaTe Universify in parTial fulfillmenT of The requiremenTs for The degree of DOCTOR OF PHILOSOPHY DeparTmenT of Zoology I977 To my parenTs, for Their paTience, guidance, and love To BeniTa, for her love and supporT To "The Boss", Herman M. SlaTis, for his supervision and friendship ACKNOWLEDGEMENTS This projecT could noT have been compleTed wifhouT The assisTance and supporT of many people. Special Thanks are due To The laTe Dr. Herman M. SIaTis. The idea for This sTudy grew from a discussion wiTh _ him, and any posiTive aspecTs of The sTudy can be direcTIy aTTribuTed To his paTienT supervision and insighTs. For This assisTance and, more imporTanTIy, his friendship, I am greale in his debT. I would also like To express my graTiTude To Dr. James V. Higgins who, under difficulT circumsTances, agreed To acT as my supervisor during The preparaTion of The Thesis. Only Through his ThoughTful commenTs and criTicisms did The Thesis Take on a semblence of order. Thanks are also due To The oTher members of my guidance commiTTee, Drs. John Gill, Emanuel Hackel, and Janice LindsTrom for Their commenTs and suggesTions. AddiTionaIly, I would like To express my appreciafion To all Those people whose friendship has made The pasT few years enjoyable. Among These people are Mike Abruzzo, Joyce CarTer, Tom Glover, KaTherine Grimes, PaT HunT, Marilyn Leonard, Bob Pandolfi, Karen Pierce, Rachel Rich, Lou BeTTy Rood, Ajovi ScoTT-Emuakpor, STeve Warren, Carola Wilson, Ron Wilson, Larry Wisniewski, and Larry YoTTi. Finally, a special Thanks is due To Sally Dickson, for her friend- ship, experT Typing, inesTimable aid In The preparaTion of This Thesis, and for The "sniff of sTrawberries". TABLE OF CONTENTS Page ACKNOWLEDGEMENTS . . . . . . . . . . . . . . . . . . . . . iii LIST OF TABLES . . . . . . . . . . . . . . . . . . . . . vii LIST OF FIGURES . . . . . . . . . . . . . . . . . . . . . xi LIST OF APPENDICES . . . . . . . . . . . . . . . . . . . . xiii INTRODUCTION . . . . . . . . . . . . . . . . . . . . . . . I REVIEW . . . . . . . . . . . . . . . . . . . . . . . . . 3 Embryogenesis and classificaTion of fingerprinT paTTerns . . . . . . . . . . . . 3 Techniques for The analysis of fingerprinT paTTerns . 5 FingerprInT abnormaliTies associaTed wiTh menTal reTardaTion . . . . . . . . . . . . . . . . . . IO Chromosomal abnormaliTies . . . . . . . . . . . . . . IO Down's syndrome . . . . . . . . . . . . . . . . IO Trisomy I3 . . . . . . . . . . . . . . . . . . . l2 Trisomy l8 . . . . . . . . . . . . . l2 Wolf- Hirschorn syndrome (4p- ). . . . . . . . . . I3 Cri -du- chaT syndrome (5p- ) . . . . . . . . . . . l3 Trisomy 8 . . . . . . . . . . . . . . . . . . I3 Trisomy 9p . . . . . . . . I4 DeleTion of The long arm of l8 (l8q- ). . . . . . I4 DeleTion of The long arm of 22 (22q- ). . . . . . l4 Sex chromosome abnormaliTies . . . . . . . . . . l5 Specific menTaI reTardaTion syndromes noT associaTed wiTh chromosome abnormaliTies . . . . . . . . . . . l6 SmiTh-Lemli-OpiTz syndrome . . . . . . . . . . . I6 De Lange syndrome . . . . . . . . . . . . . . . l7 RubinsTein-Taybi syndrome . . . . . . . . . . . l7 IdiopaThic menTal reTardaTion . . . . . . . . . . . . I8 Page MATERIALS AND METHODS . . . . . . . . . . . . . . . . . . . 24 CollecTion of daTa. . . . . . . . . . . . . . . . . . . 24 Analysis of fingerprinTs . . . . . . . . . . . . . . . 25 Physical examinaTion . . . . . . . . . . . . . . . . . 26 RESULTS . . . . . . . . . . . . . . . . . . . . . . . . . . 29 ToTal finger ridge counT. . . . . . . . . . . . . . . . 29 PaTTern inTensiTy . . . . . . 32 Frequency disTribuTion of The fingerprinT paTTerns. . . 37 Analysis of The Ten- ~finger paTTerns . . . . . 54 Analysis of paTTern Types seen To be elevaTed in The reTarded populaTion . . . . . . . . . . . . . . . . . . 70 Analysis of individuals wiTh arches on any finger . . . . . . . . . . . . . . . . . . . . . . 70 Overall number of arches in individuals wiTh aT leasT one arch . . . . . . . . . . . . . . . . 7| Analysis of arches on digiT l . . . . . . . . . . 73 Analysis of arches on digiT 4 . . . . . . . . . . 76 Analysis of arches on digiT 5 . . . . . . . . . . 78 Analysis of individuals wiTh a radial loop on aT leasT one number I digiT . . . . 78 Analysis of females wiTh an ulnar loop on aT IeasT one number I digiT and a whorl on The oTher number I digiT (groups 2 and 3) . . . . . . . . . 78 Analysis of paTTerns of digiT 2 . . . . . . . . . 82 Analysis of digiT 3 . . . . . . . . . . . . . . . 82 Analysis of digiT 4 . . . . . . . . . . . . . . . 85 Analysis of digiT 5 . . . . . . . . 85 Analysis of males wiTh ulnar Ioops on boTh number I digiTs (group I) . . . . . . . . . . . . 88 Summary of The analysis of Ten-finger paTTerns. . . . . 9O SelecTion of reTarded individuals To be furTher examined . . . ... . . . . . 93 ExaminaTion of reTarded individuals wiTh an arch or radial loop on aT IeasT one number | digiT . . . . . 96 Physical examinaTion . . . . . . . . . . . . . . . . . 96 Family and biochemical daTa . . . . . . . . . . . . . . IO4 CyTogeneTic evaluaTion . . . . . . . . . . . . . . . . lO6 Page Case I IO6 Case II . . . . . . . . . . . . . . . . . . . . . Il3 Case Ill . . . . . . . . . . . . . . . . . . . . . |I6 Case IV . . . . . . . . . . . . . . . . . . . . . |l9 DISCUSSION . . . . . . . . . . . . . . . . . . . . . . . . . I23 FingerprinT paTTern combinaTions in excess among menTally reTarded individuals . . . . . . . . . . . I27 ExaminaTion of individuals wiTh a radial loop or arch on aT IeasT one number I digiT . . . . . . . . . . I30 Incidence of crypTorchidism . . . . . . . . . . . . I3| Incidence of chromosome abnormaliTies . . . . . . . . . I34 DeTecTion of a probable chromosome syndrome . . . . . . I39 SUMMARY . . . . . . . . . . . . . . . . . . . . . . . . . I48 APPENDICES . . . . . . . . . . . . . . . . . . . . . . . . . ISI LIST OF REFERENCES . . . . . . . . . . . . . . . . . . . . . I77 vi LIST OF TABLES Table Page I. Overall frequencies of ulnar loops, whorls, radial loops and arches among IOO conTroI males, 2|5 menTally reTarded males, IOO conTrol females and I63 menTaIly reTarded females . . . . . . . . . . . . . . . . . . . . . 20 2. Overall frequencies of ulnar loops, whorls, radial loops and arches among 299 conTrol and 28l non-Down's menTalIy reTarded individuals (from Lu, I968) ... . . . . . . . . . 2l 3. Overall frequencies of ulnar loops, whorls, radial loops and arches in 200 conTrol and 50 non-Down's menTaIly reTarded individuals (from Saksena and MaThur, I974) . . . 22 4. Division of The 868 reTarded individuals by sex and level of reTardaTion . . . . . . . . . . . . . . . . . . . 25 5. Analysis of variance To deTermine if significanT mean differences exisT beTween normal and reTarded males wiTh respecT To ToTal finger ridge counT . . . . . . . . . 33 6. Analysis of variance To deTermine if significanT mean differences exisT beTween normal and reTarded females wiTh respecT To ToTal finger ridge counT . . . . . . . . . 34 7. Kruskal-Wallis TesT To deTermine if significanT mean differences exisT beTween conTrol and reTarded males wiTh respecT To paTTern inTensiTy . . . . . . . . . . . . 38 8. Kruskal-Wallis TesT To deTermine if mean differences exisT beTween normal and reTarded females wiTh respecT To paTTern inTensi y . . . . . . . . . . . . . . . . . . . 4O 9. Frequency of occurrence of digiTal paTTerns among males (733 conTrol, I35 profoundly reTarded, I43 severely reTarded, I38 moderaTely reTarded, l2I mildly reTarded). . 42 Table Page IO. Frequency of occurrence of digiTaI paTTerns among females (730 conTrol, l02 profoundly reTarded, 7O severely reTarded, l05 moderaTely reTarded, 54 mildly reTarded). . . . . . . . . . . . . . . . . . . . . . . . . 45 II. Overall frequency of The four digiTal paTTerns among conTrol and reTarded individuals . . . . . . . . . . . . . 48 l2. Chi square TesT To deTermine wheTher There is an equal number of loops, whorls, and arches beTween The normal and reTarded groups . . . . . . . . . . . . . . 52 I3. AssignmenT of Three-number codes for all Ten-finger paTTerns falling inTo one of The firsT four groups . . . . 55 I4. AssignmenT of Two-number codes for all Ten-finger paTTerns wiTh an arch or radial loop on aT IeasT one number | digiT . . . . . . . . . . . . . . . . . . . . . . 56 IS. Goodness of FIT TesT To deTermine wheTher differences exisT beTween reTarded and conTrol males wiTh respecT To paTTern combinaTions of digiT l and digiT 2 . . . . . . 59 I6. Goodness of FiT TesT To deTermine wheTher differences exisT beTween reTarded and conTrol females wiTh respecT To paTTern combinaTions of digiT l and digiT 2 . . . . . . . . . . . . . . . . . . . . . . . . . 64 I7. Number of arches in individuals wiTh aT leasT one arch . . . . . . . . . . . . . . . . . . . . . . . . . . . 72 I8. Individuals wiTh l-5 arches and wiTh 6-IO arches . . . . . 72 I9. Frequency of conTrol and reTarded individuals wiTh arches on one or boTh number I digiTs . . . . . . . . . . . . . . 74 20. Individuals wiTh an arch on one or boTh number I digiTs and 6-IO arches overall . . . . . . . . . . . . . . 74 2|. Number of individuals wiTh an arch on aT leasT one number I digiT and no arch or radial loop on eiTher number 2 digiT . . . . . . . . . . . . . . . . . . . . . . 75 22. Individuals wiTh an arch on aT leasT one number I digiT and a whorl(s) on any finger . . . . . . . . . . . . 75 viii Table Page 23. ConTrol and reTarded individuals wiTh aT leasT one arch on digiT 4. . . . . . . . . . . . . . . . . . . . . . 77 24. ConTrol and reTarded individuals wiTh an arch on aT IeasT one number 5 digiT . . . . . . . . . . . . . . . . . 79 25. Confrol and reTarded individuals wiTh a radial loop on aT leasT one number I digiT . . . . . . . . . . . . . . 8O 26. Number of female conTrol individuals wiTh an ulnar loop on one number I digiT and a whorl on The oTher number I digiT . . . . . . . . . . . . . . . . . . . . . . 8| 27. DisTribuTion of paTTerns of digiT 2 among individuals wiTh Ten-finger paTTerns falling inTo groups 2 or 3 . . . 83 28. PaTTerns of digiT 3 among females wiTh Ten-finger paTTerns falling inTo Group 2 or Group 3 . . . . . . . . . 84 29. PaTTerns of digiT 4 among females wiTh Ten-finger paT- Terns in Groups 2 and 3 . . . . . . . . . . . . . . . . . 86 30. PaTTerns of digiT 5 among females wiTh Ten- finger paT- Terns in Groups 2 and 3 . . . . . . . . . . . . 87 3|. Ten-finger paTTerns of males wiTh ulnar loops on boTh number I digiTs . . . . . . . . . . . . . . . . . . . 89 32. Types of Ten-finger paTTerns found in excess among menTally reTarded individuals. . . . . . . . . . . . . . . 9| 33. ReTardedzconTrol raTios among differenT levels of reTardaTion wiTh respecT To seven caTegories of Ten- finger paTTerns seen in excess among reTarded indi— viduals . . . . . . . . . . . . . . . . . . . . . . . . . 94 34. Summary of findings among 47 menTally reTarded individuals wiTh an arch or radial loop on aT leasT one number I digiT .-. . . . . . . . . . . . . . . . . . . 97 35. RelaTionship beTween level of menTal reTardaTion and The number of physical abnormaliTies among individuals wiTh an arch or radial loop on aT leasT one number I dlgl‘I‘ IO3 36. Normal values for ToTal finger ridge counT, paTTern inTensiTy, and frequency of digiTal paTTern Types among Caucasian individuals . . . . . . . . . . . . |24 Table Page 37. 2x2 conTingency Table To TesT The hypoThesis ThaT differences in frequency of crypTorchidism exisT beTween menTaIIy reTarded males wiTh crypTorchidism and menTally reTarded males in general . . . . . . . . . . I32 38. Previous cyTogeneTic surveys of menTally reTarded individuals . . . . . . . . . . . . . . . . . . . . . . . I35 39. 2x2 conTingency Table To TesT The hypoThesis ThaT differences exisT wiTh respecT To The frequency of chromosome abnormaliTies seen in The Michigan survey and among individuals wiTh abnormal ThumbprinTs seen in The presenT sTudy . . . . . . . . . . . . . . . . . . . I37 40. Previous reporTs of parTial Trisomy l5 . . . . . . . . . . l4| Figure I5. LIST OF FIGURES AnaTomical feaTures of a Typical fingerprinT paTTern DifferenT Types of fingerprinT paTTerns ToTal finger ridge counTs in conTrol and menTally reTarded males . ToTaI finger ridge counTs in conTrol and menTally reTarded females PaTTern inTensiTy in conTrol and menTaIly reTarded males ' PaTTern inTensiTy in conTrol and menTally reTarded females Family pedigrees from five reTarded individuals wiTh abnormal ThumbprinTs whose family hisTories were posiTive for menTal reTardaTion Case I Giemsa-Trypsin banded karyoType of Case I. ParTial karyoType of cases I and II, using sequenTial 0 To C banding . ParTial giemsa-Trypsin banded karyoTypes of cases | and II . . . . Case II Case lII . . . . . . . . . . . . . . . Giemsa-Trypsin banded karyoType of Case Ill; The four chromosomes aT The righT are Two pairs of #I5's from Two addiTional cells . . . . Giemsa-Trypsin banded karyoType of Case IV . xi Page 30 3| 35 36 I05 I08 IIO I|2 |I5 lI8 I20 l22 Figure Page I6. Three possible mechanisms leading To The producTion of a bisaTelliTed, dicenTric chromosome: A. asym- meTrical reciprocal TranslocaTion, B. isochromaTid break followed by proximal sisTer union, C. crossing over following a paracenTric inversion . . . . . . . . . . I47 xii LIST OF APPENDICES Appendix Page A Physical examinaTion form used in evalu- aTing The majoriTy of individuals wiTh abnormal ThumbprinTs (obTained from Oakdale DevelopmenTal CenTer, Lapeer, Michigan ISI 8 Ten finger paTTerns in conTrol and menTally reTarded males grouped according To The Three number codes described in Tables l3 and I4 l52 C Ten finger paTTerns in conTrol and menTally reTarded females grouped according To The Three number codes described in Tables I3 and I4 I66 xiii INTRODUCTION During The Third and fourTh monThs of human feTal developmenT, epidermal ridge configuraTions are formed on The palmar and planTar surfaces of The body. These configuraTions will laTer be recognizable as The fingerprinTs, palmprinTs, and fooTprinTs, and are disTincTive in several ways: I. because of Their early Time of formaTion, They can acT as sensiTive indicaTors of developmenTal disrupTions occurring early in feTal life 2. once formed, They are unaffecTed by environmenTal or aging facTors, and reTain The same morphology (excepT for size) for The lifeTime of The individual 3. They show considerable variabiliTy; no Two individuals possess The exacT same seT of configuraTions. The sTudy of These ridge configuraTions is known as dermaTo- glyphic analysis, and has come To play an increasingly imporTanT role in medical geneTics. Many geneTic disorders, parTicularly Those associaTed wiTh menTal reTardaTion, are now known To include charac- TerisTic dermaToglyphic abnormaliTies. In facT, for cerTain of These disorders iT has been possible To formulaTe diagnosTic indices based solely on dermaToglyphic discriminanTs. Such indices have been parTicularly useful in diagnosis of specific chromosomal abnormaliTies (e.g., Trisomies I3, l8, and 2|), alThough for each of These syndromes a definiTive diagnosis can be achieved only Through cyTogeneTic evaluaTion. MosT of The diagnosTic indices ThaT have been formulaTed have used boTh hand- and fooTprinT paTTerns in developing appropriaTe discriminanTs. However, in one sTudy (SlaTis and Hassold, l97l) a comparison of fingerprinT paTTerns beTween normal and Down's syndrome individuals led To The formulaTion of an index capable of diagnosing Down's syndrome wiTh 95% accuracy. This degree of accuracy compares favorably wiTh oTher, more complex, dermaToglyphic indices for The diagnosis of Down's syndrome. The purpose of The presenT sTudy was To deTermine The usefulness of such a fingerprinT analysis as a screening Technique in idiopaThic menTal reTardaTion. Specifically, The Ten finger paTTerns of conTrol and reTarded individuals were To be compared To deTermine if There exisT, wiThin The reTarded populaTion, any sub-groups wiTh similar, non-normal fingerprinT paTTerns. If such sub-groups were isolaTed, individuals wiThin a group were To be examined wiTh respecT To family hisTory, physical sTigmaTa, and possible biochemical or chromosomal abnormaliTies. From such examinaTions, iT was ThoughT ThaT previously undeTecTed, menTal-reTardaTion syndromes mighT be uncovered. REVIEW Embryogenesis and classificaTion of fingerprinT paTTerns FingerprinT paTTerns are known To develop in associaTion wiTh The volar pads (Mulvihill and SmiTh, I969). The pads are aggregaTions of mesenchymal Tissue which occur as elevaTions on each of The Toe- and fingerTips and on cerTain parTs of The palm (beneaTh each of The digiTs and in The hypoThenar area, The proximal parT of The ulnar side of The palm). The volar pads are firsT observed aT The sixTh week of developmenT, and reach Their maximal growTh beTween The TenTh and TwelTh weeks (Cummins, I929; Hale, I952). As The volar pads begin To recede, The fingerprinTs are formed in The spaces previously occupied by The pads (Hirsch and Schweichel, I973). According To several invesTigaTors, The Type of fingerprinT paTTern is dependenT on The shape of The volar pad which preceded iT (Crawford, I968; Penrose, I968; Mulvihill and SmiTh, I969; Hirsch and Schweichel, I973; Okajima, I975). The enTire process of fingerprinT paTTern formaTion is compleTed beTween The I9Th and 20Th weeks of gesTaTion (Cummins, I929; Hale, I952; Preus and Fraser, I972). Once formed, fingerprinT paTTerns reTain The same morphology (excepT for size) for The life of The individual (AITer, I967; HolT, I968). FingerprinT paTTerns are caTegorized on The basis of Three anaTom- ical feaTures - The Triradius, The Type lines, and The paTTern core (Figure I). Type lines are ridges which immediaTely surround The 3 TRIRADIUS PATTERN CORE TYPE LINES RIDGE COUNT = 5 FIGURE I. AnaTomical feaTures of a Typical fingerprinT paTTern paTTern area, Thereby defining The limiTs of The paTTern. The Type lines are formed by The Triradius, which is a juncTion of Three ridges. The paTTern core is The apparenT cenTer of The paTTern area. The ridge counT, a measuremenT made on fingerprinT paTTerns, is defined as The number of ridges beTween The Triradius and The paTTern core, minus The ridges aT The Triradius and paTTern core. Based on These feaTures, Three differenT Types of fingerprinT paTTerns are recognized - arches, loops, and whorls. These differenT Types of paTTerns are illusTraTed in Figure 2. An arch is a non- paTTern in which The ridges flow from one side of The finger To The oTher. Two Types of arches may be disTinguished: simple arches, which do noT have a Triradius, and TenTed arches, wiTh a Triradius. By definiTion, arches always have a ridge counT equal To zero. A loop is a paTTern in which The ridges enTer The paTTern area from one side of The finger and curve back To exiT on The same side of The finger. There are Two Types of loops: ulnar loops and radial loops. In The former case The loop opens Toward The ulnar side of The hand; in The IaTTer Toward The radial. A loop has one Triradius and one ridge counT (equal To aT leasT one). A whorl, The mosT complex Type of fingerprinT paTTern, is characTerized by a circular or ellipTical shape wiTh aT IeasT Two Triradii and Two ridge counTs. Rarely, whorls may have Three Triradii and, in such cases, Three ridge counTs. Techniques for The analysis of fingerprinT paTTerns Early sTudies of fingerprinT paTTerns were concerned wiTh Their inheriTance and Their usefulness in analyses of racial variaTions. “/2 J However, wiTh Cummin's discovery (I936) of palm- and fingerprinT differences beTween Down's syndrome and normal individuals, The possible diagnosTic value of dermaToglyphic analysis became apparenT. Since ThaT Time, The majoriTy of fingerprinT analyses have been aimed aT The deTecTion of paTTern abnormaliTies for a varieTy of geneTic and environmenTal disorders. The analyTical Techniques used in These sTudies can be grouped inTo Three general caTegories: l. analysis of paTTern Type and inTensiTy 2. analysis of ridge counTs 3. analysis of The Ten fingerprinT paTTerns as one enTiTy. l. Analysis of paTTern Type and inTensiTy The simplesT and mosT common meThod of sTudy seen in analyses of fingerprinT paTTerns involves an analysis of The frequency disTribu- Tion of paTTern Types. For each of The Ten fingers, The paTTern Type is recorded and The findings compared for The populaTions under sTudy. Two exTensions of This analysis are The arch—whorl index (Dankmeijer, I934) and The paTTern inTensiTy index (Cummins and Midlo, I935). The arch-whorl index was designed To deTermine The relaTive simpliciTy of complexiTy of fingerprinT paTTerns for a given populaTion. For such purposes, The populaTions being examined are given a score. The score is arrived aT by dividing The number of arches seen by The number of whorls, and mulTipIying by IOO (arch/whorl x IOO). This index has been of liTTle value in medical geneTics because; I. noT all individuals wiThin a populaTion can be assigned a score (i.e., indivi— duals wiTh no whorls have a maThemaTicalIy undefined score), 2. scores may be greale exaggeraTed if The group being sTudied includes only a small number of individuals (i.e., if an individual wiThin The group has all arches or whorls, The overall score may be arTificially inflaTed or deflaTed), 3. The index gives no indicaTion as To The disTribuTion of whorls or arches on The individual digiTs. Like The arch-whorl index, The paTTern inTensiTy index is inTended To indicaTe The relaTive complexiTy of fingerprinT paTTerns wiThin a given populaTion. Scores are deTermined by summing The number of Triradii on The Ten fingers for each individual (arch = 0, ulnar loop = l, radial loop = I, whorl = 2). Hence, paTTern inTensiTy scores normally range from 0 To 20 (excepT in The rare cases where whorls wiTh Three or more Triradii are seen). Unlike The arch-whorl index, paTTern inTensiTy values can be assigned To any individual. However, similar drawbacks wiTh respecT To small groups and specific comparisons of paTTern Type disTribuTion IimiT The applicabiIiTy of This analysis for medical geneTics. 2. Analysis of ridge counTs Ridge counT analysis was firsT formally discussed by Bonnevie (I924). Like The arch-whorl and paTTern inTensiTy indices, if has been used To indicaTe The relaTive complexiTy of paTTerns in an individual or populaTion. _Ridge counTs from each finger may be examined separaTely or summed To give a single value per Individual. HoIT (I968) disTinguished beTween Two Types of summed vaers: The absoluTe ridge counT, in which all ridge counTs are summed (since whorls have Two ridge counTs, This value may involve summaTion of more Than Ten ridge counTs), and The ToTal finger ridge counT, in which one ridge counT per finger is included in The ToTal value (in The case of whorls, only The larger of The Two ridge counTs is summed). Of The Two meThods of ridge counT analysis, The ToTal finger ridge counT is The one mosT ofTen used. By iTself, This analysis is of liTTIe value in medical geneTics, because iT includes no descripTion of The paTTern Types and Their disTribuTion on The fingers. However, when used in combinaTion wiTh such a descripTion, iT adds considerable knowledge abouT The complexiTy of The paTTerns. 3. Analysis of The Ten fingerprinT paTTerns as one enTiTy In a comparison of fingerprinT paTTerns of normal individuals, Down's syndrome individuals, and idiopaThic menTally reTarded indi- viduals, Lu (I968) analyzed The Ten fingerprinT paTTerns from each individual as if They were one dermaToglyphic TraiT. Thus, an indi- vidual wiTh Ten ulnar loops was considered To have one paTTern, an individual wiTh nine ulnar loops and a whorl on digiT l of The righT hand a second paTTern, and an individual wiTh nine ulnar loops and a whorl on digiT l of The lefT hand a Third paTTern. In This manner, Lu hoped To demonsTraTe ThaT unusual combinaTions of paTTerns, as well as unusual paTTerns by Themselves, could be useful in discrimi- naTing beTween normal and non—normal groups. While Lu's sTudy was hindered by a small sample size, subsequenT sTudies (SlaTis and Hassold, l97l; Thompsen and Bandler, I973) have shown The usefulness of This Type of analysis. In facT, a diagnosTic index for Down's syndrome based largely on Lu's analyTic Technique was shown To have a 95% accuracy raTe (SlaTis and Hassold, l97l). FingerprinT abnormaliTies associaTed wiTh menTal reTardaTion AbnormaliTies of fingerprinT paTTerns have been seen in asso- ciaTion wiTh a varieTy of menTal reTardaTion syndromes. For mosT The abnormaliTies are sulee and are reflecTed as slighT changes in paTTern frequencies from Those of conTrol individuals. However, for cerTain chromosomal abnormaliTies The differences are of diagnosTic usefulness. In The following secTion, a review is given of fingerprinT abnormal- iTies seen in associaTion wiTh chromosomal abnormaliTies, menTal reTardaTion syndromes noT associaTed wiTh chromosomal syndromes, and idiopaThic menTal reTardaTion. Chromosomal abnormaliTies Down's syndrome Down's syndrome has been The mosT exTensively sTudied menTal reTardaTion syndrome wiTh respecT To dermaToglyphic analysis. Cummins (I936, I939, I943) was The firsT To describe significanT abnormaliTies in The fingerprinT paTTerns of Down's individuals. He reporTed ThaT, among The Down's individuals, There was an increased frequency of ulnar loops and a concomiTanT decrease in The frequency of all oTher paTTerns. Cummins also found ThaT, in Down's syndrome, radial loops were mosT commonly seen on digiT 4 and digiT 5 (among normal individuals, radial loops are frequenle seen on digiT 3 buT are found only rarely on digiTs 4 and 5. All of Cummins' findings have been confirmed by several invesTigaTors (Walker, I957, I958; Geipel, I96I; Beckman ef al., I962; HolT, I964; SolTan and ClearwaTer, I965; SmiTh eT al., I966; Lu, I968; FujiTa, I969; Giovannuci and BarTolozzi, I969; Greyerz—Gloor ef al., I969; Shiono, I969; BryanT, I970; Borgaonkar, l97l; SlaTis and Hassold, l97l; Thompsen and Bandler, I973; Deckers eT al., I973). HolT (l95l) deTermined ThaT, in Down's syndrome, The ToTal finger ridge counT is significanle reduced when compared To The normal populaTion (l36.4 vs. l28.7). AddiTionaIly, Geipel (I967) and HolT (I964) reporTed ThaT, among Down‘s individuals, The loops Tend To be high and L-shaped. Similar findings were reporTed by SlaTis and Hassold (l97l), and were used in consTrucTing a diagnosTic index for Down's syndrome. STudies of TranslocaTion Down's syndrome individuals have yielded resulTs essenTially The same as for The Typical Trisomy (Rosner and Ong, I967; SolTan and ClearwaTer, I965). Mosaic Down's individuals have shown paTTern frequencies inTermediaTe beTween normal and Trisomic individuals (Loesch, I974). FingerprinT paTTern abnormaliTies have been uTilized in The developmenT of several dermaToglyphic indices for The diagnosis of Down's syndrome. MosT of These indices also have included palmar and/or planTar paTTerns To help To discriminaTe beTween The Down's and normal populaTions (Cummins and PlaTou, I946; Cummins ef al., I950; Turpin and Lejeune, I953; Walker, I957, I958; Beckman ef al., I965; Greyerz-Gloor ef al., I969; Reed, I970; Reed ef al., l97l; Borgaonker, I970; Deckers ef al., I973). Two indices, however, have been based solely on fingerprinT paTTerns (Lu, I968; SlaTis and Hassold, I97I). Trisomy l3 CharacTerisTic fingerprinT abnormaliTies associaTed wiTh Trisomy l3 include an increased frequency of arches and radial loops, wiTh an accompanying decrease in whorls and ulnar loops (Uchida ef al., I962; Penrose, I966; Yunis, I966). Lazyuk ef al. (l97l) found ThaT almosT 80% of Trisomy I3 individuals in Their sample had aT leasT one arch, and Preus and Fraser (I972) reporTed ThaT 25% have four or more arches. Only 3% of conTrol individuals have four or more arches (Preus and Fraser, I972). The occurrence of radial loops on digiTs oTher Than digiT 2 has also been reporTed To be increased in Trisomy I3 (Lazyuk, l97l). Analyses of individuals wiTh parTial Trisomy for The proximal segmenT of chromosome l3 (Escobar and Yunis, I974), and for The disTal segmenT of l3 (Escobar ef al., I974; Schinzel eT al., I976) have noT yielded any abnormaliTies wiTh respecT To fingerprinT paTTerns. Trisomy I8 The mosT obvious fingerprinT abnormaliTy associaTed wiTh Trisomy l8 is a dramaTic increase in The frequency of arches. Ten arches are seen in approximaTely 40% of all individuals wiTh Trisomy l8 (Schauman and AlTer, I976), and fewer Than six arches is rare (Preus and Fraser, I972). The frequency of ulnar loops and whorls is much reduced in Trisomy l8 (Uchida eT al., I962; Uchida and SolTan, I963; Penrose, I969). The overall frequency of radial loops is abouT The same as for The general populaTion; however, These are seen in increased frequency on digiTs oTher Than digiT 2, parTicularly on digiT l (Preus and Fraser, I972). Wolf-Hirschorn syndrome (4p—) DermaToglyphic abnormaliTies reporTed in associaTion wiTh shorT arm deleTion of chromosome 4 include hypoplasTic dermal ridges, an increased frequency of arches, and a reduced ToTal finger ridge counT (Miller eT al., I969; GuThrie eT al, l97l). Cri-du-chaT syndrome (5p-) WarburTon and Miller (I967) reporTed an increase in whorls and ToTal finger ridge counT, and a decrease in ulnar loops, among individuals wiTh 5p-. These resulTs were supporTed by The findings of Miller eT al. (I969) and Niebuhr (l97l). Trisomy 8 The only obvious fingerprinT abnormaliTy seen among II individuals wiTh Trisomy 8 or Trisomy 8 mosaicism was an increase in The frequency or arches, which accounTed for 40% of all paTTerns seen (Schauman eT al., I974; Jacobsen eT al., I974). Accompanying This increase was The expecTed decrease in ToTal finger ridge counT. One individual wiTh Trisomy for The shorT arm of chromosome 8 had radial loops bilaTeralIy on digiT I, a finding almosT never seen in conTrol individuals (Preus and Fraser, I972). Trisomy 9p In Trisomy 9p, whorls have been reporTed To be reduced and arches increased in frequency in a small series of individuals (SchwaniTz eT al., I974; Blank eT al., I975; Lurie eT al., I976). Of five individuals wiTh a parTial deIeTion for The shorT arm of chromosome 9 (The anTi-syndrome of Trisomy 9p), four had six whorls and The fifTh individual had Ten whorls, findings exachy The reverse of ThaT for The Trisomic sTaTe (Alfi ef al., I976). DeleTion of The long arm of l8 (l8q-) CharacTerisTic fingerprinT abnormaliTies associaTed wiTh l8q- include an increase in whorls and ToTal finger ridge counTs. All Twelve individuals examined by Mavalwala eT al. (I970), PlaTo eT al. (l97l), and Schinzel eT al. (I974) had aT leasT four whorls. The overall percenTage of whorls for These individuals was 68%. DeleTion of The long arm of 22 (22q-) STudies of eighT individuals wiTh 22q- showed an overall increase in The frequency of whorls (Schindler and Warren, I973). All buT one individual had aT leasT four whorls, and The overall frequency of whorls among The eighT individuals was 60%. Sex chromosome abnormaliTies FingerprinT abnormaliTies associaTed wiTh sex chromosome abnormaliTies are less sTriking Than Those for auTosomal errors, and involve minor shifTs in paTTern frequencies. STudies of Turner's syndrome have revealed a modesT reducfion in arches, balanced by an increase in ulnar loops. Frequencies for whorls and radial loops are very nearly The same for Turner's and normal females (HolT, I964; Borgaonkar, I970). UnexpecTedly, There is a significanT increase in ToTaI finger ridge counT among Turner's individuals (HolT, I964; AlTer, I965; Penrose, I967; Borgaonkar, I970). This is noT The resulT of an increase of more complex paTTerns in Turner's syndrome; raTher, iT reflecTs The facT ThaT, in Turner's syndrome, The paTTerns Tend To be larger and have a greaTer number of ridges Than seen in normals. HoIT (I964) found no obvious differences in fingerprinT paTTerns among Turner's individuals wiTh differenT chromosome consTiTuTions (i.e., X0, mosaic XX/XO, isochromosome X). FingerprinT abnormaliTies associaTed wiTh KlinefelTer's syndrome (XXY) include a slighT increase in The frequency of arches and a decrease in The ToTal finger ridge counT (HunTer, I968; Cushman and SolTan, I969). Similar findings, buT more pronounced, have been seen for XXYY Individuals (Uchida eT al., I964; AlTer eT al., I966). A relaTively small number of XXX females have been sTudied wiTh respecT To dermaToglyphic analysis. One sTudy revealed a significanT decrease in ToTal finger ridge counT in 23 XXX females, when compared To conTrol females (Penrose, |967). STudies of XYY males have shown a moderaTe excess of arches among These individuals, wiTh a decrease in ToTal finger ridge counT (Tsuboi and Nielsen, l969; Malalwaka, I970; Borgaonkar and Mules, I970; Saldana-Garcia, I973). STudies of ToTal finger ridge counT among normal males and females, and males and females wiTh sex chromosome abnormaliTies, have shown ThaT an inverse relaTionship exisTs beTween The number of sex chromosomes presenT and The ToTaI finger ridge counT (Penrose, |967). Specific menTal reTardaTion syndromes noT associaTed wiTh chromosome abnormaliTies SmiTh-Lemli—OpiTz syndrome SmiTh, Lemli and OpiTz (I964) described The firsT Three paTienTs wiTh This syndrome, and noTed ThaT Two of The Three had l0 whorls each. Dallaire (I969) described The dermaToglyphic findings in five addiTional paTienTs; one had l0 whorls, one nine, and a Third four. Shiono and Kadowaki (I976) summarized dermaToglyphic findings of 24 individuals ciTed in The liTeraTure, and reporTed ThaT l0 had six or more whorls. De Lange syndrome SmiTh (I966) sTudied The dermaToglyphics of 2| individuals.wiTh de Lange syndrome and reporTed an overall reducTion in whorls, and an increase in radial loops (parTicuIarIy on digiTs 2, 3 and 4). These findings were corroboraTed by a second sTudy of nine de Lange individuals (Abraham and Russell, I968). RubinsTein-Taybi syndrome Robinson eT al. (I966) reporTed dermaToglyphic abnormaliTies in Two individuals wiTh RubinsTein—Taybi syndrome. The firsT had eighT digiTaI arches, and The second had Two paTTerns (a radial loop and an ulnar loop) on one digiT I. In a second sTudy of I9 affecTed individuals, an overall increase in The frequency of arches was re- porTed (Giroux and Miller, |967). AddiTionaIly, Two of The indivi- duals in This sTudy were observed To have Two paTTerns on one digiT I. In a Third sTudy of I7 individuals, an overall increase in arches was noTed (Simpson and Brissenden, I973). CongeniTal Rubella The mosT consisTenT fingerprinT abnormaliTy associaTed wiTh congeniTal rubella is an‘overall increase in whorls and a decrease in all oTher paTTerns (AlTer and Schulenberg, I966; SmiTh and Menser, I968; SmiTh eT al., I969, SmiTh and Menser, I973). SmiTh eT al. (I969) noTed ThaT The overall percenTage of whorls among l00 indi— viduals wiTh congeniTal rubella was 42.4% compared wiTh 22.8% among conTrols, a sTaTisTicaIly significanT difference. Achs eT al. (I966) suggesTed ThaT among individuals wiTh congeniTal rubella, The fre- quency of radial loops on digiTs oTher Than digiT 2 was increased. This, however, has noT been confirmed by oTher invesTigaTors (AlTer and Schulenberg, I966; SmiTh and Menser, I968; SmiTh eT al., I969). IdiopaThic menTaI reTardaTion Only a few sTudies have been done which compare fingerprinT paTTerns among normal and non-specific menTalIy reTarded individuals. In an early sTudy, Bonnevie (I927) examined fingerprinT paTTerns of 280 normal and 280 menTally reTarded individuals. No aTTempT was made To separaTe The groups by sex or To caTegorize The reTarded group by diagnosis. Bonnevie noTed The following differences in The reTarded group when compared To The conTrols: I. an increased frequency of arches on digiT 3 (.09 compared wiTh .O7)* 2. an increased frequency of large loops (noT specified as ulnar or radial) on digiT I (.36 vs. .28), digiT 2 (.20 vs. .I2), digiT 3 (.38 vs. .28), and digiT 4 (.25 vs. .2l) 3. a decreased frequency of whorls on digiT 2 (.20 vs. .25) and digiT 3 (.08 vs. .I3). Blumel and Poll (I928) also found a decrease in The frequency of whorls among The reTarded individuals They examined. However, * values were exTracTed from graphs composed by Bonnevie and are only approximaTe as in The case of Bonnevie's sTudy, Their reTarded group has been described as "poorly defined" (AlTer, I966). AlTer (I966) analyzed dermaToglyphic paTTerns of 200 conTrol and 376 non-specific menTally reTarded individuals. Males and females of boTh groups were examined separaTely. AddiTionaIly, The reTarded group was screened To remove from The sTudy any individuals wiTh known geneTic or environmenTal causes for Their reTardaTion. No obvious differences wiTh respecT To fingerprinT paTTerns were seen beTween The conTrol and reTarded individuals (Table I). Lu (I968) examined fingerprinT paTTerns of 299 normal individuals (I43 males and I56 females) and 28| non-Down's menTaIIy reTarded individuals (I70 males and Ill females). Males and females were noT analyzed separaTely. For each individual, The Ten digiTaI paTTerns were considered as a single enTiTy, or "Ten-finger paTTern". Ten- finger paTTerns as well as frequencies of paTTerns on The individual digiTs, were compared beTween The conTrol and reTarded groups. Lu observed ThaT, among The reTarded group, ulnar loops were reduced on all fingers excepT digiT 2 of The righT hand, whorls were increased on all fingers, and arches were increased on digiT I of boTh hands and reduced on seven of The eighT remaining digiTs. The frequency of radial loops was noT noTiceany differenT beTween The Two groups. Overall frequencies of ulnar loops, whorls, radial loops, and arches from Lu's sTudy are shown in Table 2. From The 28l reTarded individuals, |5l Ten-finger paTTerns were seen ThaT were noT observed among The conTrol populaTion. Conversely, 20 TABLE I. Overall frequencies of ulnar loops, whorls, radial loops and arches among IOO conTrol males, 2I5 menTally reTarded males, IOO conTrol females and I63 menTally reTarded females MALES ConTrol Ulnar loop .587 Whorl .300 Radial loop .042 Arch .O7I FEMALES ConTrol Ulnar loop .603 Whorl .274 Radial loop .O4I Arch .082 MenTally reTarded .584 .305 .042 .069 MenTaIly reTarded .587 .304 .026 .082 2| TABLE 2. Overall frequencies of ulnar loops, whorls, radial loops, and arches among 299 conTrol and 28! non-Down's menTaIly reTarded individuals (from Lu, I968) . ConTrol MenTalIy reTarded Ulnar loop .64! .600 Whorl .235 .300 Radial loop ‘ .049 .052 Arch .074 .049 I76 Ten-finger paTTerns were found only in The 299 conTrol indivi- duals. However, for mosT of These Ten-finger paTTerns, only a single conTrol or reTarded individual was observed. Thus, alThough Lu aTTempTed To discriminaTe beTween Those paTTerns which were indicaTive of The reTarded group and Those indicaTive of The conTrol populaTion, The effecTs of chance on his findings musT be considered. However, one Type of Ten-finger paTTern was seen To be greale increased among The reTarded group. TwenTy-five reTarded individuals (.089 of The ToTaI) and only I2 normal individuals (.040) were seen To have Ten ulnar loops. Saksena and MaThur (I974) examined The dermaToglyphics of 200 normal and 50 non-Down's menTaIIy reTarded individuals. No indi- caTion was given as To The number of individuals of each sex examined. SignificanT findings among The reTarded group included: I. an increase in whorls on digiTs 3, 4 and 5 2. an increase in arches on digiTs l, 2 and 3 22 TABLE 3. Overall frequencies of ulnar loops, whorls, radial loops, and arches in 200 conTrol and 50 non-Down's menTally reTarded individuals (from Saksena and MaThur, I974) ConTrol MenTally ReTarded Ulnar loop .609. .380 Whorl .330 .530 Radial loop .020 .OI4 Arch .042 .076 3. a decrease in ulnar loops on all digiTs 4. a decrease in radial loops on digiTs 2 and 3. Overall frequencies of The four Types of digiTal paTTerns from Saksena and MaThur's sTudy is shown in Table 3. Singh (I976) compared 53 non-specific menTally reTarded males and 500 conTrol males wiTh respecT To I5 dermaToglyphic feaTures. Among The feaTures sTudied were The Ten individual ridge counTs, overall frequency of ulnar loops, overall frequency of radial loops, frequency of Two paTTerns on a single finger, ToTal number of Triradii on The Ten fingers, and paTTern asymmeTry. A mulTivariaTe analysis of These l5 feaTures was used in assigning Two canonical variaTes To each of The groups. The variaTes were used in consTrucTing a scaTTer diagram, on which The means of The Two groups were examined To deTermine wheTher or noT The disTance beTween Them was sTaTisTically significanT. No such difference was observed. IT is difficulT To compare These various sTudies of idiopaThic 23 menTaI reTardaTion for Two reasons: for mosT of The sTudies, IiTTle informaTion was given wiTh. respecT To The make-up of The populaTions (I.e., severiTy of reTardaTion, Type of reTardaTion, sex disTribuTion, and racial disTribuTion), and in only Two of The sTudies (Lu, I968; Saksena and MaThur, I974) were daTa presenTed wiTh respecT To The frequency disTribuTion of The four fingerprinT paTTern Types; iT is inTeresTing To noTe ThaT in boTh of These sTudies, The reTarded groups had a reduced frequency of ulnar loops, an increased frequency of whorls and arches, and abouT The same frequency of radial loops as The normal individuals. In The presenT sTudy, iT was possible To improve upon These earlier sTudies in Two ways: by increasing The sample size, and by beTTer conTrolling The reTarded group wiTh respecT To sex, race,and severiTy and Type of reTardaTion. MATERIALS AND METHODS CollecTion of daTa FingerprinT paTTerns from 868 Caucasian menTalIy reTarded indi- viduals were collecTed from The Oakdale CenTer for DevelopmenTal DisabiliTies, Lapeer, Michigan, and The ColdwaTer STaTe Home and Training School, ColdwaTer, Michigan. Prior To The collecTion of The prinTs, consenT forms had been obTained from eiTher The parenTs or legal guardians of approximaTely 600 of These individuals. The consenT form used in obTaining This permission is shown in appendix l; addresses of The parenTs or legal guardians had been obTained from The insTiTuTions and The parenTs or guardians were Then conTacTed by mail. PrinTs from The remaining individuals were collecTed from |970-l972, prior To The Time when consenT forms were required by The insTiTuTions. PrinTs were obTained by applying sensiTizing fluid To The digiTs and rolling The finger on phoTographic paper. ApplicaTors, sensiTizing fluid, and paper were obTained from The FauroT Company, New York CiTy, New York. Only menTaIIy reTarded individuals wiTh no known geneTic or environmenTaI cause for Their reTardaTion were included in The sample. Because of previously reporTed differences beTween males and females (Cummins and Midlo, I943; HolT, I968), The 868 individuals were separaTed inTo groups of 537 males and 33l females. Each sex was Then divided inTo four groups on The basis of 24 25 TABLE 4. Division of The 868 reTarded individuals by sex and level of reTardaTion Level of ReTardaTion Males - Females Profound I35 I02 Severe I43 70 ModeraTe I38 lO5 Mild . l2l 54 |.Q. scores: profound reTardaTion (I.Q.=O-l9), severe reTardaTion (l.Q.=20-35), moderaTe reTardaTion (l.Q.=36—5l), and mild reTardaTion (l.Q.=52-67). Thus, The 868 reTarded individuals were divided inTo eighT groups, as shown in Table 4. FingerprinT paTTerns from l500 conTrol individuals (750 of each sex) were obTained from The Michigan STaTe Police sTaTion aT EasT Lansing, Michigan, and The Michigan STaTe UniversiTy School of Criminal JusTice, EasT Lansing, Michigan. PaTTerns from I? males and 20 females were subsequenTIy discarded becauseof scarring, ampuTaTion, or smudged prinTs, leaving a ToTal of 733 conTrol males and 730 conTrol females. Analysis of fingerprinTs EighT hundred individuals were arbiTrarily selecTed for a comparison of quanTiTaTive dermaToglyphic TraiTs beTween The reTarded and conTrol groups. Individuals selecTed included 200 conTrol males, 200 conTrol females, and 50 Individuals from each of The eighT 26 reTarded groups. For each individual, Two quanTiTaTive measuremenTs were made: I. ToTaI finger ridge counT; individual ridge counTs were made according To The guidelines of Penrose (I968) and The highesT ridge counTs from each of The Ten digiTs were summed To give The ToTaI ridge counT 2. paTTern inTensiTy; The ToTaI number of Triradii on The Ten digiTs. DigiTal paTTerns from all conTrol and reTarded individuals were analyzed and classified as eiTher ulnar loops, whorls, radial loops, or arches, in accordance wiTh Penrose (I968). The Ten digiTal paTTerns of each individual were Then considered TogeTher as a single dermaTo- glyphic paTTern, or Ten-finger paTTern (Lu, I968). Physical examinaTion ForTy—seven reTarded individuals wiTh similar, non-normal ThumbprinT paTTerns were examined wiTh respecT To physical sTigmaTa, family, gesTaTional, and developmenTal hisTories, and possible biochemical or chromosomal abnormaliTies. Records on file aT The insTiTuTions were used To review previous physical examinaTions, hisTories, and urinalyses of The 47 individuals. Physical examinaTions of 27 of The 47 individuals were carried ouT by sTaff physicians of The Two insTiTuTions; The remainder were examined by The auThor and aT leasT one oTher individual familiar wiTh medical geneTics. Two forms were used in describing physical sTigmaTa of The individuals; The one more commonly used is shown in Appendix I. 27 CyTogeneTic evaluaTion of The 47 individuals was carried ouT aT The HawThorne CenTer, NorThville, Michigan. Four individuals wiTh abnormal findings were referred To The Human CyTogeneTics LaboraTory aT Michigan STaTe UniversiTy for confirmaTion of The abnormaliTy and deTaiIed cyTogeneTic examinaTion. For each individual, Two micro- and Two macro-blood culTures were processed. MicroculTures were esTablished by adding .25—.50 ml. of whole blood To Gibco IA microculTure Tubes. MacroculTures were esTablished by adding l—2 ml. serum To flasks conTaining Gibco IA medium and supplimenTed wiTh I5% feTal calf serum.. CulTures were incubaTed aT 37 degrees CenTigrade for 68 hours, aT which Time colchemid (.5 mg/ml) was added To The culTures To arresT Them aT meTaphase. AfTer Two hours, culTures were removed from incubaTion and harvesTed. The harvesTing procedure included hypoTonic TreaTmenT (.075 M KCI) and Three changes of fixaTive (3:l meThanol: aceTic acid). Slides were prepared by spreading 3-4 drops of culTure maTerial onTo slides pre-cleaned in 95% meThanol and flame drying. Preliminary cyTogeneTic evaluaTion was carried ouT using giemsa: Trypsin banded meTaphase preparaTions. One To seven day old slides were incubaTed aT 65° C for I2-24 hours. Slides were Then immersed in phosphaTe buffer (0.025 M KH2P04; pH 6.8) for IS seconds To 5 minuTes, and subsequenle TreaTed wiTh Trypsin (l ml O.I% Trypsin: 8 ml meThanol: 36.4 ml 0.025 M KH2P04; pH 6.8) for IS seconds To 5 minuTes. PhoTographs of appropriaTe meTaphases were Taken using a Zeiss PhoTomicroscope ll, using Pan-X film. PrinTs from The negaTives were developed using Kodabromide F-2 paper. 28 AddiTional slides were analyzed using a sequenTial quinacrine To cenTromeric banding Techniques (Caspersson, I97l). Fresh To 2 day old slides were sTained in a soluTion of 0.5% equeous quinacrine dihydrochloride plus a small amounT of quinacrine musTard (less Than O.l mg/ml) for 5-IO minuTes. Slides were rinsed for one minuTe in running Tap waTer, and for 45 seconds in phosphaTe buffer (32 ml O.l M ciTric acid: 50 ml 0.2 M NaZHPO4 , pH 5.6), and mounTed in The buffer. MeTaphases were examined under a Zeiss PhoTomicroscope ll, equipped wiTh a HBO—200 mercury lamp, and using barrier filTers 53/44. PhoTographs of good qualiTy meTaphases were Taken using Kodak Tri-X film; prinTs from negaTives were made wiTh Kodabromide F—4 paper. Oil was removed from The Q-banded slides by TreaTmenT wiTh xylene, followed by Three rinses in eThanol. ProTocol for The cenTromeric banding was as follows: slides were TreaTed in 0.2 N HCI for 20 minuTes, rinsed in 2xSSC briefly, TreaTed wiTh saTuraTed acqueous barium hydroxide for 5—7 minuTes, and incubaTed aT 65°C in 2xSSC for l2-24 hours. Slides were Then sTained in 5% giemsa. PhoTographs of meTaphases previously analyzed wiTh Qébanding were made on a Zeiss PhoTomicroscope ll using Pan-X film. PrinTs from negaTives were made using Kodabromide F—4 paper. RESULTS Analysis of fingerprinT paTTerns was carried ouT in Two sTeps. FirsT, a sTudy of quanTiTaTive TraiTs was performed To deTermine if any differences could be deTecTed beTween The conTrol and reTarded groups. TraiTs examined included ToTal finger ridge counT, paTTern inTensiTy, and overall frequency disTribuTion of The four paTTern Types. Secondly, Ten—finger paTTerns were analyzed To deTermine if differences exisTed beTween The conTrol and reTarded groups. In This analysis, however, The emphasis was noT on The characTerizaTion of differences, buT was placed on The deTerminaTion of which reTarded individuals should be examined for possible idenTificaTion of new menTal reTardaTion syndromes. ToTal finger ridge counT Findings wiTh respecT To ToTal finger ridge counT are represenTed graphically in Figures 3 and 4.‘ For boTh sexes, The mean value for conTrol individuals was higher Than The overall mean for reTarded individuals. Among The males, The mean values were l38.26i5l.00 and I24.77i45.56 for The conTrol and reTarded individuals, respecTively. Corresponding values for The females were l25.46i47.02 and l2l.68i43.36. As can be seen, The difference beTween The conTrol and reTarded groups was greaTer among The males Than The females. AddiTionaIly, examinaTion 29 3O _ CONTROL (u=200; conREETED T0 50) 7:138:5— __ PROFOUND M.R. (N=)0) 93114.0 -_-- SEVERE M.R. (w=50) i7=125.0 . MODERATE M.R. (n=)0) V=]27.8 18 ._.._. MILD M.R. (N=50) V=132.3 16 . .4. 14 d 12 . 10 4 20 60 100 140 180 22 260 300 TOTAL FINGER RIDGE COUNT FIGURE 3. ToTal finger ridge counTs in conTrol and menTally reTarded males 3| _ CONTROL (N=200: CORRECTED T0 50) V=125.3 _... PROFOUND M.R. (N=S()) i7=115.7 _.... SEVERE M.R. (N=50) V=120.3 ....... MODERATE M.R. (N=)0) V=117.5 28 I -....- mm m. (n=50) V=133.3 26 . . .l\ 24 I l \ 22 7 " o \o ,J” g \ 20 . ., . .\ 18 , .' .I 3 .\. 16 . ' .’ ,— \. .— I" \ 14 . - ° 12 . 10 4 8 l 6 . II . 2 . 20 60 100 140 180 220 260 TOTAL FINGER RIDGE COUNT FIGURE 4. ToTaI finger ridge counTs in conTrol and menTally reTarded females 32 of The eighT reTarded groups revealed ThaT, for each sex, The lowesT mean values were found in The profoundly reTarded groups, and The highesT values were seen in The mildly reTarded groups. Two analyses of variance (one for each sex) were carried ouT To deTermine if significanT mean differences exisTed beTween The conTrol and reTarded groups. ResulTs are shown in Tables 5 and 6. AddiTionaIly, resulTs of specific comparisons made using orThogonal conTrasTs are summarized in These Tables. ResulTs from These analyses reveal ThaT: I. among males The mean difference beTween The conTrol and ToTal reTarded group was sTaTisTicaIly significanT aT p=.05; however, The mean difference beTween The mildly reTarded group and The oTher Three reTarded groups did noT reach significance 2. among females The difference in means beTween The conTrol and ToTal reTarded groups was noT significanT aT p=.05; nor was The difference beTween The mildly reTarded group and The oTher reTarded groups. PaTTern inTensiTy Findings wiTh respecT To paTTern inTensiTy are represenTed graphically in Figures 5 and 6. No sTriking differences in mean values were deTecTed beTween The reTarded and conTrol groups. Among The males, The mean for The conTrol group was l2.44i3.59, sligthy higher Than ThaT for The reTarded group, l2.28il.37. The reverse was True for The females; The conTrol group had a mean value of ll.86il.38, and The reTarded group a mean of ll.96i5.l0. As was The case for 33 TABLE 5. Analysis of variance To deTermine if significanT mean differences exisT beTween normal and reTarded males wiTh respecT To ToTaI finger ridge counT Model = Yij = u + ai + E(;)J where cl = conTrol a2 = profound reTardaTion a3 = severe reTardaTion a4 = moderaTe reTardaTion a5 = mild reTardaTion ANOVA Table Source of variaTion d.f. §§_ M§_ f-raTio I.O. levels 4 27226 6806.5 2.9l7* Error 395 92l6l8 2333.2 ToTal 399 948844 f .05,4,395 = 2'4' OrThogonal ConTrasTs C! (I. (X (l O. I. conTrol vs. m.r. i. Z. .2 +4 -I —l 2. mild m.r. vs. remaining m.r. O -l -l —l +3 “-I-b IU‘I l? l l3.485 i 9.48 * for a .05 ‘ |0.040 i 23.22 for a .05 N D N l * significanT aT p = .05 34 TABLE 6. Analysis of variance To deTermine if significanT mean differences exisT beTween normal and reTarded females wiTh respecT To ToTal finger ridge counT Model = YIJ = U + 0i + E(I)J where a l = conTrol 02 = profound reTardaTion 03 = severe reTardaTion a 4 = moderaTe reTardaTion a5 = mild reTardaTion ANOVA Table Source of variaTion I.Q. levels 4 10972.: 2743.03 l.344 Error 395 806I75.9 2040.95 ToTaI 399 8I7I48.0 f.05,4.395 = 2°4' OrThogonal conTrasTs 13.2.3115. I. conTrol vs. m.r. +4 —I — -l -I 2. mild m.r. vs. remaining m.r. O -I -l -| +3 I. A. = 3.78 i 8.87 for a = .05 I5.49 i 2|.72 for a = .05 N D M II 35 CONTROL} (n=200:co [acted to 50) Y=1_2_.Mu . I, m— a, ImmTIR. T¥m11nm‘ " ' . 0“, ‘ =50 (ii-SO) Y=12 . 80 PATTERN IIITIEIIS [TY FIGURE 5. PaTTern inTensiTy in conTrol and menTally reTarded males '36 CONTROL (n=200;correctgd to 50) Y=11.86 PROFOUND M.R. (n=50) Y=ll.66 24 . SEVERE M.R. (n=50) i=11.98 ....__._._._ MODERATE M.R. (11:50) X=ll.96 o o o o o O o o. MILD M-R. (“=50) Y=12.22 —o—o- 0—0- 20 . V 'fi 2 4 6 10 12 14 16 18 20 PATTERN INTENSITY FIGURE 6. PaTTern inTensiTy in conTrol and menTalIy reTarded females 37 ToTal finger ridge counT, examinaTion of The eighT reTarded groups revealed ThaT, for each sex, The lowesT mean value was seen in The profoundly reTarded group and The highesT value in The mildly reTarded group. Visual examinaTion of The paTTern inTensiTy disTribuTions showed Them To be posiTiver skewed (Figures 5 and 6). Thus, non-parameTric TesTs were used in TesTing The hypoThesis ThaT significanT differences in means exisTed beTween The various groups. Two Kruskal—Wallis TesTs were carried ouT, one for each sex. DaTa and resulTs are shown in Tables 7 and 8. Differences were noT significanT for eiTher sex (aT p=.05). Frequency disTribuTion of The fingerprinT paTTerns DisTribuTion of The four fingerprinT Types (ulnar loops, whorls, radial loops, and arches) among conTrol males, conTrol females, and The eighT reTarded groups is shown in Tables 9, l0 and II. Tables 9 and IO deTail The disTribuTion of The paTTerns on The individuals digiTs; Table II shows The overall disTribuTion of The paTTerns. Several findings were seen To be common To The conTrol groups of boTh sexes: \ l. ulnar loops were The mosT commonly seen paTTerns (males=.593; females=.669); These were observed mosT frequenle on digiTs 3 and 5 and were seen leasT frequenTIy on digiT 2, 2. whorls were The second mosT commonly observed paTTerns (males: .3l0; females=.2l9); TogeTher wiTh ulnar loops, These Two 38 m_mo_ m.vom mom wmw oov_ moo NV_N Noo_ 0mm m_© mom o_o_ o_m ONOOOOLDOO Acvacv U__2 0 Ln ck3—-c>c>c>c>—-c>c>q-c>wvaq-v-h~01v-mini—4 m._©m© m.mm__ m.Nmm 0mm 0 o qmm_ o_w m.NvN vmmm m___ non m.mm_ co m.mN N OOOOOMO AcVALV O (.0 ckDCDCDc>c>64c>-OJM\n~h-q-—-Mlq-c>c>oq—-NH o+mcovoz NNOQ. m.vom m.mwm 0mm oov_ moo «mum Nmo_ m.N_N_ com m___ wow mo_ 0 m.mm _M —00000 ACVALV oco>om 0 Ln ch—c>c>c>c>c>oa—-c>oqann~—-mx<-o~o¢q-OI—-—4 _vow own m.Nwm mom 0mm m._mm N_© m©m_ m.N_N_ omo_ vmm mom m.nm_ 00 ha m.m_ o m_ m.m o o o ACVALV 0 Ln ck:C>C3-04c>—-OINTNTO\m3wxmxwxo:-—-—--ou oc:0+oLd m.momov m.N>m_ m.h>©N omen comm m.oomv comm _v©v m.Nm_m Nmmv ©_mm mmmm mvo Nm_ _v_ _m o on m.m . o o o Acvacv OO—VONKOVGD _oL+coo +m_xo moococm++_o come +cmo_+_cm_m $_ mc_eLm+ou 0+ +mo+ m___mzl_mxmacx >+_mco+c_ cco++ma 0+ +ooamoL c+m3 mm_ms omncm+mc 6cm _oL+coo cooz+oD .w m4m Im+mo 39 www.0uv.mo.mcmaom _co m: .mu GO .\ _ N_ .MHU®+U®LLOUI 8." x_+cwcxcwcx_-cwc\ee -_ u a “mo_+ L0+ co_+ooccoo _N_.m :25? mmcirsd TEEESRQW. II I “no:c_+couv h w4mlo—mmvmonooox m.oaoo m.m4mo_ memo m.aooa m.mNNO4 IIIII bm III E III bm bu I blow m.©N__ m o O! m.mam _ m.ow__ m m.om__ m m.mmm m.Nmm _ o o m.NmN _ m.Nmm _ m.No__ m m.Nmm NmN N NN__ m 4cm. 4 NmN N omNN 8 on m.mNo_ m N_N N m.mNo_ m o o mmmm o. m.mmm 04m _ ONo_ 4 com. 4 owe N ooom 0 04m .48 N _4a N m.ONm _ m.on _ NN44 4_ m.ONm mam m mam m maN _ mOON N m_om N_ NON Nmo_ 4 mNm_ 4 omN m NON _ N404 o. NON m.Noo_ m m.4_4N __ omN_ m m.©mm_ N m.m40m mN m.a_N o_m m o_m m cow m mac 4 NN44 4N NN_ m.NON_ m. m.m4N_ __ _mo 0 m.mN4_ m. m.m_mm _m m.m__ m.oa_ m NN. N m.N_m m m.mo _ m.me m_ m.mo mm N 44 _ Nm_ m mm N mom N 44 No N o o o o m.mm _ m.oo_ m m.mm o o o o NN m 8N _ on. m 4N m.m_ _ m.m_ _ o o m.m_ _ m.mm m m.m_ o o o o N_ _ 4N N 44 4 N_ o o __ N m.m _ o o m.o_. m m.m o o o o o o o o o o o o o o o o m._ _ m._ _ m._ o .p o .p o .p o .p o .p AECALV c NEVALV c Acchc c NEVALV c Acchv c chxcmm U_ .2 w+ML®UOZ ®L®>®m UCDO+OLQ _OL+COO >+_mco+c_ cc0++ma 0+ +00am0c c+_3 m0.mEo+ noncm+oc new .mELOC c003+on +m_x0 m00c0L0++_u c005 +_ 0c_EL0+mo 0+ +m0+ m__.03i_mxmncx .m m4m<+ I (U 4. (O O 4| mm4.o u v.mo.0Lm:om .co ImNN. H U®+U®LLOUI 0mm. N x_+cwcxcwc2_-cwv\4Nl _ o ”m0_+ L0+ co_+ooccoo II I . MNN. :+cwv mu ch>fwvww HC+chcw0c0200Lm .mo. ©N_. __ n_ hmo. m>_. m 4N NNN. 0mm. om O4 mmo. 004. mm 4m omo. moo. am we mmo. N_N. h_ mm_ m©_. 0mm. _N_ mmN _mn. 40m. 04m mom m N 6cm: ++04 _wo. __ ooo. wow. 04 NNQ. 4w 0N0. _N .00. mmm. m4N mmo. @04 NumoLQNQC N_4__s _N_ .cmucm+oc >_cc30+oLa mm_ ._0L+c00 mmnv >_0c0>0m m4. omo. NNo. com. um w4m. _o_ 4_o. o. _oo. w_N. 00_ wow. mom .umucm+0L >_0+mcouoe mm. NNo. 000. 004. o_m. on N_o. m_o. mom. mum mo4. _4m 4 owe. a... mmo. N. o. m m_o. om_. 000. N _m _ mm_. 0mm. wNm. om 44 _m 4ON. 004. mom. mm 4m 6N _oo. m__. m_o. m4 mm __ m_o. N4N. ooo. __ .m. 0 4a.. 0mm. om4. mm_ mom Nmm O4N. _wm. mom. N4m com onm m N _ 4cm: +cm_m .nmvcm+mL .0 m4mmm A00:c_+coov 0 mqm. m0 0N0. 000. m04. N.m. N0 4 400. mmo. 00.. 4N 400. 40 m 4cm: +cm_m 04.. 0. 04N. 0N NNm. 0m 0mm. mm N 0N0. 000. 54m. N4 0N0. cocm goo. .m.cmc .L053 goo. cm:.: 04.: A00::.+coov 0 mqm4 N40400+0L >_4_.E 40 440830.. >.0+mcmuos mo. .umvcm+0c >.0Lm>0m on 04.. m. 0N0. 40.. 0. 040. 00 0N.. 40 N40. .m m00. 000 fi. 444: +44. NN.. m. mmN. 4N 00N. 0N mmm. 0m Nm_. 00 mmN. m4. NON. m0. m0m. 00N N 000. 0.0. 4Nm. mm 0mm. 00 0m0. 0N .00. m4N. 04. 0.4. NNm 0m0. 000. 04.. m. 4N0. 40 m.0. 0. m00. m0.. mm .00. m40 000. 000. 004. 04 004. 04 0N0. 0. 0.0. N. mmm. m4N 0N0. 404 4 4N4. 4N_. 444. 4 4. 4 4.4. 44.. 444. N 4N 4 44.. 444. 444. 4. 44 N4 4_N. 44N. 444. 4N 44 44 444. 44.. 4N4. 44 44. N. 444. N4.. .44. 4 NN. . NN.. 44N. 44N. 44 44N 4.N .44. N44. .44. 444 44N N44 4 N . 444: +44.4 .00400+0L >.4c:0+0c4 N0. ._00+coo 0mm. mm_mem+ 0:084 44L0++04 _m+.0.u +0 00:0LL4000 +0 >040400Lm .0. m.0mm .00:C.+c00. 0. 0400m 44404000 _oL+coo 004<2 m.m:n.>.cc. 40440+0c new .04+coo 0:050 mccm++ma .m+_0_n 4304 05+ 40 404030044 ..mcm>0 .__ 0.0<4 49 m40. 040. 000. 040. 000. 400. 44N .4 .4 44 N4 N44 4444 N44. 444. 444. 444. 444. 444. N4. 44 N4 N4 44 444 444. .4.444 44N. N4N. 44N. 444. .NN. 4.N. .44 44. ..4 4_N 4NN 444. .4442 444. 444. 444. 4N4. 444. 444. 444. .N4 444 444 444 4444 444. 444.4 44.4444. .444uc. .444.u4. .44Nuc. .4N4.nc. .444N44. .4.2 40:_4500 4..: 0+mcmnoz 040>0m 0:3040La .0L+coo 44.<244 Aumac.+coo. ._ m.0<4 50 paTTern Types accounTed for almosT 90% of The paTTerns seen among conTrol Individuals 3. radial loops and arches were only rarely seen, and Then usually on digiT 2 (males - arches=.044, radial loops=.052; females — arches=.064, radial loops=.048). Several differences were also noTed beTween The Two conTrol groups. These included an increased frequency of ulnar loops among The females, wiTh an accompanying decrease in The frequency of whorls. Generally, The disTribuTion of paTTern Types among The reTarded groups was similar To ThaT seen for The conTrols. Ulnar loops were The mosT commonly seen paTTerns (males=.592; females=.595), whorls were The second mosT common (males=.286; females=.284), and radial loops and arches were rarely seen excepT on digiT 2 (males - arches: .070, radial loops=.052; females - arches-.073, radial loops=.047). However, several differences were seen beTween The conTrol and reTarded groups, and are lisTed below. I. Among The reTarded individuals of each sex, There was an overall increase in The frequency of arches (males - .070 vs. .044; females - .073 vs. .064). This was seen in seven of The eighT reTarded groups, The only excepTion being moderaTer reTarded females. The increase in arches was parTicularly noTice- able 0n Those digiTs where arches are rare in conTrols - digiT l and digiTs 4 and 5. For The I463 conTrol individuals, The frequency of arches on digiT I was .026; for The 868 reTarded individuals, The frequency was .056. Corresponding frequencies 5| for digiT 4 were .022 for The conTrols and .040 for The reTarded individuals; Those for digiT 5 were .0I7 for The conTrols and .033 for The reTarded individuals. Increased frequencies of arches among The reTarded individuals were also seen on digiTs 2 and 3, buT These were noT nearly as sTriking as Those on The Three oTher digiTs. 2. AlThough The overall frequency of radial loops was approximaTely The same for boTh The conTrol and reTarded populaTions (males - .052 for boTh groups; females — .048 for The conTrol and .047 for The reTarded group), The frequency of radial loops on digiT l was elevaTed among The reTarded individuals (males — .006 vs. .OOI; females - .006, vs. .OOI). Overall frequency of radial loops on digiT l was .OOI for The conTrols and .006 for The reTarded individuals. 3. Among The females only, There was an increase in The frequency of whorls among The reTarded individuals. This was accompanied by a decrease in The frequency of ulnar loops in The reTarded groups. These findings were consTanT wiTh all four of The female reTarded groups and, for The mosT parT, The shifTs in frequencies were seen on all Ten digiTs. Two 2x4 conTingency Tables were consTrucTed To deTermine wheTher The frequency of The four paTTern Types were The same for The conTrol and reTarded populaTions. One Table was consTrucTed for each sex. ResulTs of The Two TesTs are shown in Table l2; iT can be seen ThaT, for each sex, The differences in paTTern frequencies were significanT 52 .4.0 m. 04m... * m40..4 m04.0N + 000. + m4m.m + 400. + 4mN.m_ + 400. + 044.N + m00. 000 040 ..0m .mm4 004N. 000 040 0444 0.40N 0.04N 4.._0_ 4.40.m .mmmm 44m 44N 04m4 4.404 4.00m 0.00_N 0.0444 0444 mNm N0m _0+o+ .0+o+ i 00+004Xm 00.<2 .405.5£00 5000 u 4 083.00 443000 0..El0+00000& 400. .0.000 n m 553.00 050 000>0mi45304004. .0053 u N 553.00 443000 40000+00 00.004 u N 300 . 400. 005.3 N 553.00 4.0500: _ 300 443000 00000+00 0:0 _0E005 05+ c003+04 405000 050 .m.0053 .4400. 40 005535 .0300 50 m. 0005+ 005+053 05.500+04 0+ +40+ 000304 .50 .N. m.0<4 .0. 4000304 .50 000304 .50 ..44 .44N 00mm. .mwmm 4NNN 4444 l U®>L®mn0 53 0.00. 0.mm 0000 n00 0.0NN 0.000 000.. + 000. + 0N0.0N + ..0.m. + 000. + 0N0. + 00m.m_ + .00.0 0.0 ..00. 0.00m N0mN 0.m0> 0.004. .000 m.hm.N n.m.n0 n 00+004Xm mm3<204 0.00. 0.mm oomn _m+o+ 00m... 000 00N n00- .+.0 m ..0. .000304 .50 * 000.00 000304 .50 o_m qum _440 mmm. mmmw. mmmwfl 044 444_ 4440 I U®>L®wn0 .0034.+4000 N. m0044444 _ 04444 N +.0.0 040 . +.0.0 +0 440.+04.5500 400++04 u 4453.00 4.030.>.04. 00000+00 +0 005534 n N 300 4.030.>.04. _00+4oo +0 005534 . 304 4 +_4_4 440 _ +_4_4 +0 440_+04.4400 c00++04 0+ +004400 5+.3 40.05 .00+4oo 040 00000+00 4003+05 +4.x0 4004000++.0 005+053 04.400+04 0+ +40+ +_0 +0 44044000 .4_ 43444 60 44._ 44.4 44. 44._ 44._ 44.4 44._ 44.4 4 4 mi4l 4 4 4_-4 __;4 00. 0m.N 04.. NN.. mm.. 00. 0m. ' l (‘4 mm.m 4m.N 0m.m N0.0 40.. MN.. N0. .0.. _4. 44._ 444344 .10 44._ 44.4 44._ 44.4 444444X4 4 4 Mn. -44. _ 4 4-4 _.4 44>44444 4 43440 40034.+4oov m. 03m44444 4 43444 .4044_+4004 4_ 43444 62 44._ 44._ 44.. 44.. 44._ 44._ _4.4 .4.4 4 4 Wm! 4 4 4_-4 4.-4 44.. 4.. 44.. 4.. 44._ 44.4 .4.4 44.4 4 4. 01:4! 4 4 4.-4 ..i4 40. N0. 00.0 04.N_ 44 M». 4. 0.10 N0. 00. 00.0 00.0. 00. 0N. 0N.0 44.0 00. N0. N..00 00.00 N_. 00. 00.0. 00..N 00. 00. 00. 0... .0.N 44.. 00.0 00.0 .0.0 0_.0 N0.N 00.N 444344-_Io 00.0. 00..N 004004Xm 0N .10 00>mmmmo 0 40000 .0034.+4000 0. 040<4 63 04.0 0..4 mm<0001.:0 40.40. H m¢<0001.IQ 4<404 44 .4_.44 .1001 44.44 44 444444X4 44>44444 0 00000 40034.+4000 0. mgm<4 N0.N 0... 04.N_ _N.0N 00 0.1. 44.. 0N. 00.0 40.0. 0. 0. 0.1. 4 ... 4 44. 44. 44.4 44._ 4_.4_ 4 44 51. .0: _ 4. 4.-. 4.-. +004400 5+.3 40.050+ 005+05z 04.500+00 0+ +40+ +.4 +0 44040000 N0. 00. .0. 00. 0_.N 00.0. N0.0 .0.00 4 00 .m: .44 0 00 N.1. ..1. 04. 00. 0 N0. 00. .0. 00. .0. 00. 40.0 00. 00. 0 .0. 00. 00. 00. 00. 0.. 00.N 44<0001.I0 00.0 04.0 _0. 00.0 00..N 00.0. 0..4 00.NN 04.0 N0.00 .0... 0N.0. 00. 04... 40.40 04.NN N0.0_ 00.00 0N.0. 00.0.. 044044X0 0. 0N _ 4. 00 00 0N N4 0N 00. 4w. 44. N4. 44. 45. 44. 44. .mm 0w. 404. 0. NN _ N. N0 0N. 0. 00 _N 0N. .0444 .044 .mu4 .4u4 .044 .mu4 .444 .mu4 .mu4 .4u4 00>40000 . 40040 N +.0.0 040 _ +.0.0 +0 440.+04.5500 400++04 n 4453.00 4.030.>.04. 00000+00 +0 005534 u N 300 4.030.>.04. .00+4oo +0 005534 n . 304 4 +.4.4 440 _ +.4.4 +0 4:0.+4c.4400 c00++04 0+ .0. m50<4 .00+4oo 040 00000+00 4003+05 +4.x0 4004000++.0 65 0N. N..0 00.0 0 005+O1N 00. 40.. 0..0 0 ll ..1N ON. 00. 00.. 00.0 00.4 00.0 00.. 00.0 N0._ N0. 00.0 .0... 00. N0. 0N.. 04.N N.. 00.0 44. 44.4 444344:_44 44.. 44.4 44.4 44.4_ 444444X4 4 4. 4 .04 4 4 4:4 .-4 44>44444 4 44444 40034.+4000 0. 050<4 66 40.. 00. 40.. 0..0 005+414 44. 44. 44. _4. 44.. 44.4 44.4 44.4 4 4 .10: .14: 4 4 4.14 ..-4 0.. 0..N N0.0 00. ON. 04.N N0._ 00. 00.0 00.. 00.0 N0.NN 40. 4.. 00.0 N0.0. 00.. 00. 0.. .4. .0. 00. 00.. 40.. 00.0 00.0 0..0 0..0. mm<0001_10 004004Xm 00>mmmmo 0 40000 A0034.+4000 0. m50<4 67 44. 4.. 44. 44. 44._ 44.. 44.4 44.4 4 4 . 4 4 4 005+414 4_-4 0N.. 40. 0N.. 04.N 0.10 00. N0. 0N.. 04.N 0.10 00. 00. 00. .0. 00.0 40.. .0... 0..0 0. 0 14.11.4I ._ 0 ..10 0.10 0.. 0..N N0.0 00.. 00. N_.0 00.0 00. 00. .0..0 00.00 N0. 00.. 0.. _4. 04.0 00.. 0N.0 00.0 N. 0 0 : 0 4 0 010 010 NN. 0.. 00.0 00.0 00. 00. mm<0001.10 04.0 0N.0. 004004xm ON _10 om>mmmmo 0 40000 40034.+4000 0. 050<4 68 00.0 40.N mm<0001.10 00.0N 0..00 QmHQmQXm 44.44 H 444344:.Io 34444 40 N0 00 om>mmmmo 0 40000 40034.+4000 0. m50<4 69 of reTarded individuals, and from 2-5 (5.85), 2—ll (4.40), 3-6 (6.37), 3-l6 (4.97), and 40l (4.88), involving an excess of conTrol indivi- duals. TogeTher These nine caTegories accounTed for over one-half of The ToTal chi—square value (59.97/lO7.87). Among The females, The differences were significanT aT p=.Ol. CaTegories in which large values were seen included 2-l (8.79), 2-7 (I0.03), 3-5 (5.28), and 5 (8.57), involving an excess in The reTarded group, and l-I (7.37), and l-5 (8.l3), in which a greaTer Than expecTed number of conTrol individuals were seen. TogeTher, These caTegories accounTed for over one—half of The ToTal chi-square value seen in The females (43.85/ 76.99). FurTher analysis of The Ten-finger paTTerns was aimed aT The deTecTion of Ten-finger paTTerns seen in excess among The reTarded groups. Because The examinaTion of ToTal finger ridge counT, paTTern inTensiTy, and frequency disTribuTion of The four paTTern Types had shown no significanT differences beTween The various levels of reTardaTion, for all furTher TesTs The reTarded individuals were divided inTo only Two groups: profound-severe reTardaTion and moderaTe-mild reTardaTion. The iniTial analysis of paTTern combinaTions (Tables l5 and I6) had revealed an excess of reTarded males among caTegories in groups | and 5; among reTarded females, excesses were seen in groups 2, 3, and 5. Thus, if was decided To furTher examine These groups To deTermine if They conTained any Ten-finger paTTerns parTicularly likely To be associaTed wiTh menTal reTardaTion. Because our earlier 7O analysis of paTTern disTribuTion had shown arches To be increased in frequency on all digiTs in The reTarded populaTion, if was decided To exTend The analysis of group 5 To include an analysis of arches in general. Thus, The following groups of Ten-finger paTTerns were evaluaTed To deTermine if any conTained groups of reTarded individuals wiTh similar Ten-finger paTTerns noT Typically seen among The conTrol individuals: I. individuals wiTh arches on any digiT 2. individuals wiTh radial loops on eiTher number | digiT (from group 5) 3. females wiTh an ulnar loop on one number | digiT and a whorl on The oTher number I digiT (groups 2 and 3) 4. males wiTh ulnar loops bilaTerally on The number | digiTs (group I). A summary of The sTaTisTical findings wiTh respecT To These groups is given in Table 32. Analysis of paTTern Types seen To be elevaTed in The reTarded populaTion Analysis of individuals wiTh arches on any finger Based on The resulTs of The earlier TesTs involving paTTern disTribuTion and paTTern combinaTions, This general heading was divided inTo four caTegories: overall number of arches among indi- viduals wiTh aT IeasT one arch; analysis of arches on digiT I; analysis of arches on digiT 4; analysis of arches on digiT 5. For 7I all four caTegories, The goal was To deTecT groups of Ten-finger paTTerns wiTh high menTally reTardedzconTroI raTios (i.e., Ten-finger paTTerns apparenTIy associaTed wiTh menTaI reTardaTion). Overall number of arches in individuals wiTh aT leasT one arch A ToTaI of 342 conTrol individuals (I48 males and I94 females) and 227 reTarded individuals (I45 males and 82 females) had aT IeasT one arch. The disTribuTion of The number of arches among These individuals is shown in Table I7. The frequency of individuals wiTh aT leasT one arch was only sligthy higher among The reTarded individuals Than The conTrol indi- viduaTs (reTarded:conTrol=l.l2:l.OO). ln facT, among The females The frequency of individuals wiTh aT leasT one arch was acTually higher among The conTrol group. However, if all individuals wiTh aT leasT one arch were subdivided inTo Two groups, Those wiTh a low number of arches (IO5), and Those wiTh a high number (6—IO), differ- ences beTween The conTrol and reTarded groups became apparenT (Table I8). Among Those individuals wiTh I—5 arches, The overall reTardedzconTrol raTio was almosT I:I (sligthy higher among The males and sligthy lower among The females). However, among Those indivi- duals wiTh arches on more Than half of The Ten digiTs, There was an increased frequency among The reTarded individuals when compared To The conTrols (overall reTarded:conTrol=l.82:I.OO). This increase was more noTiceable in The males Than The females, and was seen in boTh |.Q. levels wiThin each sex. 72 TABLE I7. Number of arches in individuals wiTh aT IeasT one arch MALES FEMALES n= # of 733 278 259 730 I72 l59 arches ConTrol Profound- ModeraTe- ConTrol Profound- ModeraTe- Severe Mild Severe Mild l 70 25 32 92 I7 l4 2 39 20 I7 35 9 7 3 l8 I0 9 I8 7 2 4 8 5 3 l9 4 3 5 5 5 5 I3 3 3 6 _ 4 3 0 ll 5 I 7 l 2 O O 0 l 8 0 l l 4 l 3 9 0 2 2 2 0 0 IO 3 2 I _12 __L I 7:? T475 ‘73 7‘6 194 47 E frequency= .202 .270 .270 .266 .273 .220 M.R.:conTrol I.34:I I.34:I l.03:| .83:I M.R.:conTrol I.34:I .93:l (combined by sex) I.l2:l TABLE I8. Individuals wiTh I-5 arches and wiTh 6-l0 arches number of individuals wiTh I-5 arches: n= I40 65 66 I77 40 29 frequency= .I9I .234 .255 .242 .233 .l82 M.R.:conTrol |.22:I I.33:l .96:I .75:l M.R. conTrol l.28:l .86:l (combined by sex) ToTaI M.R.:conTrol |.06:l number of individuals wiTh 6-I0 arches n= 8 I0 - 4 l7 7 6 frequency= .0II .036 .OI5 .023 .O4I .038 M.R.:conTrol 3.30:l l.42:l l.75:l I.62:l M.R.:conTrol 2.36:l I.70:I (combined by sex) ToTal M.R.:conTrol I.82:| 73 Analysis of arches on digiT I Table I9 shoWs The number of conTrol and reTarded individuals wiTh arches on one or boTh number | digiTs. The frequency of indi- viduals wiTh an arch on one or boTh number I digiTs was found To be higher among The reTarded individuals Than The conTrol individuals. AlTogeTher, The frequency of individuals wiTh an arch on one or boTh number | digiTs was 0.038 (55/I463) among The conTrols and 0.079 (69/868) among The reTarded individuals. This TranslaTes To a 2.I2:I.00 reTarded To conTrol raTio. The difference in frequencies beTween The conTrol and reTarded individuals was more sTriking among The males Than The females and among The profound-severe group Than The moderaTe-mild group. Analysis of individuals wiTh an arch on one or boTh number I digiTs and 6-I0 arches overall revealed an even higher reTarded: conTrol raTio (Table 20). Again, The differences seen beTween The conTrol and reTarded groups were more apparenT among The males, and among The profound-severe groups. Among normal individuals, arches on digiT l are commonly seen in associaTion wiTh arches or radial loops on digiT 2 (SlaTis, personal communicaTion). Thus, in an aTTempT To furTher improve upon The reTardedzconTrol raTio wiThin The arch on digiT I group, all individuals wiTh an arch on aT IeasT one number I digiT and no arch or radial loop on eiTher digiT 2 were examined. Findings are summarized in Table 2|. AlThough The number of individuals is small, iT can be seen ThaT The reTarded individuals were much more likely 74 TABLE I9. Frequency of conTrol and reTarded individuals wiTh arches on one or boTh number | digiTs MALES FEMALES overall n= (733) (278) (259) (730) (I72) (l59) Profound ModeraTe Profound ModeraTe ConTrol Severe Mild ConTrol Severe Mild Arch on righT digiT I I 5 2 5 2 3 Arch on lefT digiT I ll l3 5 l6 9 6 Arches on boTh digiTs I l0 _fl) 6_ l__ '5 3 ToTaI E? 2 13 33 l5 (2’ Frequency .030 .IOI .050 .045 .093 .076 M.R.:conTrol 3.36:! l.67:I 2.06:l l.76:l Combined M.R.:conTrol 2.53:I l.89:| (by sex) ToTal M.R.:conTrol 2.I2:I TABLE 20. Individuals wiTh an arch on one of boTh number I digiTs and 6-I0 arches overall MALES FEMALES overall n= (733) (278) (259) (730) (I72) (l59) Profound ModeraTe Profound ModeraTe ConTrol Severe Mild ConTrol Severe Mild n 5 8 4 7 5 3 Frequency .007 .029 .0l5 .0l0 .029 .0l9 M.R.:conTrol 4.22:I 2.26:! 3.03:I l.97:l Combined M.R.:conTrol 3.|4:I 2.40:I ToTaI M.R.:conTrol 2.8lzl 75 TABLE 2|. Number of individuals wiTh an arch on aT leasT one number I digiT and no arch or radial loop on eiTher number 2 digiT MALES FEMALES overall n= (733) (278) (259) (730) (I72) (I59) Profound ModeraTe Profound ModeraTe ConTrol Severe Mild ConTrol Severe Mild Arch on righT digiT l 0 l I 0 0 0 Arch on lefT digiT I I 5 l 0 3 5 Arches on boTh digLiTS I 2 I. 2 L _0_ 9 ToTal 4 7 2 l 3 5 Frequency .005 .025 .007 .00l .0l7 .03l M.R.:ConTrol 4.6|:l I.42:l l2.73:l 22.96:l M.R.:ConTroI 3.07:l l7.64:l (combined by sex) ToTal M.R.:ConTrol 5.73:| TABLE 22. Individuals wiTh an arch on aT IeasT one number I digiT and a whorl(s) on any finger MALES FEMALES overall n= . Profound ModeraTe Profound ModeraTe ConTrol Severe Mild ConTrol Severe Mild Arch on righT digiT I 0 4 l I 0 l Arch on lefT digiT 2 7 5 3 3 4 5 Arch on boTh digiTs I 2_ i_ .3 2 2 0 ToTal 9 IO 7 '6’ E 6 Frequency .0l2 .036 .027 .008 .035 .038 M.R.:ConTrol 2.03zl 2.20:l 4.24:l 4.59:l M.R.:ConTroI 2.58:I 4.4I:| (combined by sex) ToTaI M.R.:ConTrol 3.26:I 76 To have This configuraTion Than were The normals (overall reTarded: conTrol raTio = 5.73:I.00). FurThermore, when individuals wiTh arches on boTh number | digiTs were removed, The difference beTween The reTarded and conTrol groups became even more pronounced. Only one conTrol and I6 reTarded individuals had This parTicular Type of Ten-finger paTTern, yielding a reTarded:conTro| raTio of 26.96:I.00. Arches and whorls are generally noT seen TogeTher in The same Ten-finger paTTern (Poll, l93l). Thus, anoTher aTTempT To improve upon The reTardedzconTroI raTio involved examining all individuals wiTh an arch on aT IeasT one number I digiT, and a whorl on any digiT. ResulTs are shown in Table 22. Again, The numbers involved were very small, buT indicaTed an increase among The reTarded groups for This parTicular Type of Ten-finger paTTern (reTardedzconTrol raTio = 3.26:I.00). Analysis of arches on digiT 4 The number of conTrol and reTarded individuals wiTh aT IeasT one arch on digiT 4 is shown in Table 23. The proporTion of indi- viduals wiTh an arch on digiT 4 was higher among The reTarded Than The conTrol populaTion (overall reTardedzconTrol raTio = 2.I5: |.00). However, These daTa were confounded by The facT ThaT many of The individuals wiThin This group also had arches on digiT I, a configuraTion already known To involve an excess of reTarded individuals. EvaluaTion of The daTa, minus Those individuals, is also shown in Table 23. An excess of reTarded individuals can sTiIl 77 TABLE 23. ConTrol and reTarded individuals wiTh aT leasT one arch on digiT 4 MALES FEMALES overall n= (733) (278) (259) (733) (I72) (I59) Profound ModeraTe Profound ModeraTe ConTrol Severe Mild ConTrol Severe Mild n I8 l6 8 27 IS I2 frequency .0l8 .058 .O3l .037 .087 .075 M.R.:ConTrol 3.25:I |.74:l 2.36:| 2.04:l M.R.:ConTrol 2.52:I 2.2I:I (combined by sex) ToTal M.R.:ConTroI 2.I5:I Minus individuals wiTh an arch on aT IeasT one number I digiT n 9 6 4 2| II 8 frequency .0l2 .022 .0l5 .029 .064 .050 M.R.:ConTrol I.76:l |.26:l 2.22zl l.75:l M.R.:ConTrol l.52:| l.99:l (combined by sex) ToTal M.R.:ConTrol |.63:| 78 be seen, alThough noT nearly so pronounced as previously (I.63:l.00). Analysis of arches on digiT 5 A ToTaI of 32 conTrol and 4| reTarded individuals had an arch on aT leasT one number 5 digiT (Table 24). This represenTs a 2.I6: I.00 reTarded:conTrol raTio. -However, many of These individuals had arches on eiTher digiT l or digiT 4, configuraTions already known To be increased among The reTarded populaTion. ExaminaTion of The daTa, minus Those individuals wiTh arches on eiTher digiT I or digiT 4, reduced The reTardedzconTroI raTio To I.26:I.00 (Table 24). Analysis of individuals wiTh a radial loop on aT leasT one number I digiT The number of conTrol and reTarded individuals wiTh a radial loop on one or boTh number I digiTs is shown in Table 25. The occurrence of This paTTern on digiT I was rare among boTh The conTrol and reTarded groups; overall frequency among The conTrol group was .002 (3/l463), while ThaT of The reTarded individuals was .0l0 (9/868). The overall reTardedzconTrol raTio was 5.06:l.00. Analysis of females wiTh an ulnar loop on one number I digiT and a whorl on The oTher number I digiT (groups 2 and 3) ExaminaTion of females wiTh Ten-finger paTTerns falling inTo group 2 or group 3 revealed a greaTer proporTion of reTarded indi- viduals Than conTrols for boTh groups (Table 26). The reTarded: 79 TABLE 24. ConTrol and reTarded individuals wiTh an arch on aT leasT one number 5 digiT MALES FEMALES overall n= (733) (278) (259) (730) (I72)' (l59) Profound ModeraTe Profound ModeraTe ConTrol Severe Mild ConTrol Severe Mild n l3 l4 9 l9 9 9 Frequency .0l8 .050 .035 .026 .052 .057 M.R.:ConTrol 3.7|:I l.96:l 2.0I:l 2.I7:l M.R.:ConTrol 2.4I:| 2.09zl (combined by sex) ToTal M.R.:ConTrol 2.I6:I Minus individuals wiTh an arch on digiT I or digiT 4 n 5 3 2 7 2 2 Frequency .007 .Oll .007 .OIO .OI2 .OI3 M.R.:ConTrol |.58:| l.l3:l |.2|:| l.3|:| M.R.:ConTrol |.35zl |.26:| (combined by sex) ToTal M.R.:ConTrol |.26:| 80 TABLE 25. ConTrol and reTarded individuals wiTh a radial loop on aT leasT one number I digiT MALES FEMALES overall n= (733) (278) (259) (730) (I72) (l59) Profound ModeraTe Profound ModeraTe ConTrol Severe Mild ConTrol Severe Mild Radial loop on digiT l on righT hand 0 2 0 I l 0 Radial loop on digiT I on lefT hand I 0 2 l l 2 Radial loops on boTh number I digifs 9. 9 I_ 2 9 2 ToTal I 2 3 2 2 2 Frequency .OOI .007 .0l2 .003 .Ol2 .OI3 M.R.:ConTrol 5.27:I 8.49:l 4.24:l 4.59zl M.R.:ConTroI 6.83:l 4.4l:l (combined by sex) ToTaI M.R.:ConTrol 5.06:l 8| TABLE 26. Number of female conTrol individuals wiTh an ulnar loop on one number I digiT and a whorl on The oTher number I digiT Group 2 (u---- w----) Group 3 (w---- u----) overall n= (730) (I72) (l59) (730) (I72) (l59) Profound ModeraTe Profound ModeraTe ConTrol Severe Mild ConTrol Severe Mild n 33 l8 IS 68 25 23 Frequency .045 .I05 .094 .093 .l45 .l45 M.R.:ConTrol 2.3|:l 2.09:| l.56:l l.56:l M.R.:ConTrol 2.3|:I I.56:l (combined by sex) ToTal M.R.:ConTrol l.77:l.00 82 conTrol raTio was higher for Those Ten-finger paTTerns in group 2 (2.2I:I.00) Than for Those in group 3 (l.56:|.00). SubsequenT anal- ysis of groups 2 and 3 was aimed aT maximizing The reTarded:conTroI raTio, and included separaTe analyses of paTTerns on digiT 2, digiT 3, digiT 4 and digiT 5. Analysis of digiT 2 DigiT 2 paTTerns of The l0l conTrol and BI reTarded females wiTh Ten-finger paTTerns falling inTo groups 2 or 3 are lisTed in Table 27. From The analysis of paTTern combinaTions (Table I6), if was already known ThaT, for groups 2 and 3, a greaTer Than expecTed number of reTarded females had ulnar loops on boTh number 2 digiTs (I9 conTrols vs. I8 reTarded females; reTardedzconTrol raTio = 2.09:I.00). AddiTionaIly, The combinaTion radial loop-whorl or whorl-radial loop on The righT and lefT number 2 digiT was found in .0ll (8/733) conTrol females and in .039 (.3/33l) of The reTarded females (reTardedzconTrol = 3.58:l.00). Analysis of digiT 3 PaTTerns on digiT 3 of all females wiTh Ten—finger paTTerns in group 2 or 3 are shown in Table 28. Because analysis revealed no difference beTween conTrol and reTarded individuals wiTh respecT To occurrence of radial loops or arches on digiT 3, These paTTerns were grouped TogeTher inTo one caTegory (i.e., oTher). Analysis of digiT 3 paTTerns revealed an excess of reTarded females wiTh 83 TABLE 27. DisTribuTion of paTTerns of digiT 2 among individuals wiTh Ten-finger paTTerns falling inTo groups 2 or 3 Group 2 (u-—-- w—-—-) Group 3 (w-~-- u—---) DigiT 2 Profound ModeraTe Profound ModeraTe RighT LefT ConTrol Severe Mild ConTrol Severe Mild U U 5 3 ‘ 7 I4 6 2 U W 0 O O 3 2 l U R 3 l l 5 0 0 U A 3 0 0 l 0 0 W U 3 l 0 9 l 5 W W 8 6 2 l6 6 IO W R 0 4 l 3 3 l W A 0 0 0 0 0 0 R U 4 I 0 2 2 0 R W I 0 | 4 l 2 R R 4 0 2 4 2 2 R A 0 O 0 0 0 0 A U 0 l l 3 0 O A W 0 0 0 0 0 0 A R 0 0 0 2 0 0 A A a _I_ 9. z a 2 n= 33 I8 I5 68 25 23 overall n= 730 I72 l59 730 I72 I59 84 TABLE 28. PaTTerns of digiT 3 among females wiTh Ten-finger paTTerns falling inTo Group 2 or Group 3 GROUP 2 GROUP 3 PaTTerns of digiT 3 Profound ModeraTe Profound ModeraTe RighT LefT ConTrol Severe Mild' ConTrol Severe Mild U U 23 9 II 40 l6 l2 U W l 4 l 4 4 2 W U 0 l 0 6 O 4 W W 3 2 l 9 l 4 OTHER .2 _z _2 _9. _e _I 33 I8 I5 68 25 23 W-U or U-W on The number 3 digiTs overall n= (730) (I72) (l59) (730) ' (I72) (I59) n= l 5 I I0 4 6 Frequency .OOI .029 .006 .OI4 .023 .038 M.R.:ConTrol - 2|.22:I 4.59:l I.70:I 2.75:I M.R.:ConTrol I3.23:l 2.2I:I (combined by group) ' ToTal M.R.:ConTrol 3.20:| 85 The combinaTion whorl-ulnar loop or ulnar loop-whorl on digiT 3. This was more procounced for Group 2 (reTarded:conTrol - l3.23:l.00) Than group 3 (2.2I:I.00). However, The increase was consisTenT for boTh groups and for boTh |.0. levels wiThin each group. The ToTaI reTardedzconTroI raTio was 3.20:l.00, almosT Twice The raTio for groups 2 and 3 in general. Analysis of digiT 4 Table 29 shows The paTTerns of digiT 4 of females wiTh Ten- finger paTTerns in groups 2 and 3. Among The conTrol females of boTh groups 2 and 3, The majoriTy of The Ten-finger paTTerns included ulnar loops bilaTerally on digiT 4. This was noT The case wiTh The reTarded females, resulTing in an increased reTardedzconTrol raTio for Ten-finger paTTerns falling inTo groups 2 or 3 buT wiThouT The combinaTion ulnar loop-ulnar loop on digiT 4. The increase in The reTardedzconTrol raTio was more noTiceable among The reTarded females of group 2 Than Those of group 3. Analysis of digiT 5 Analysis of digiT 5 paTTerns among females wiTh Ten-finger paTTerns in groups 2 or 3 revealed an excess of reTarded females wiTh a whorl on one or boTh number 5 digiTs (Table 30). The reTarded: conTrol raTio (3.67:I.OO) was approximaTely Twice as greaT as The overall raTio for groups 2 and 3 TogeTher. Again, The increase in The frequency of reTarded females wiTh This paTTern was more marked 86 TABLE 29. PaTTerns of digiT 4 among females wiTh Ten-finger paTTerns in Groups 2 and 3 GROUP 2 GROUP 3 PaTTerns of digiT 4 Profound ModeraTe Profound ModeraTe RighT LefT ConTrol Severe Mild ConTrol Severe Mild U U 2| 6 6 34 9 D 7 U W 3 I I 2 4 l W U 2 I 3 II 3 7 W W 6 9 3 20 8 8 OTHER 1. _I_ z _I- _I_ .9 33 I8 I5 68 25 23 No: U-U on digiT 4 GROUP 2 GROUP 3 Profound ModeraTe Profound ModeraTe ConTrol Severe Mild ConTrol Severe Mild n l2 l2 9 34 l6 l6 Frequency .Ol6 .070 .056 .047 .093 .094 M.R.:ConTrol 4.24:I 3.44:1 2.00:| 2.I6:I M.R.:ConTrol 3.86:I 2.08:l (combined by group) ToTal M.R.:ConTrol 2.54:I TABLE 30. 87 PaTTerns of digiT 5 among females wiTh Ten-finger paTTerns in groups 2 or 3 GROUP 2 GROUP 3 PaTTerns of digiT 5 Profound ModeraTe Profound ModeraTe RighT LefT ConTrol Severe Mild ConTrol Severe Mild U U 28 l0 I3 56 I9 I3 U W 3 6 O 3 2 0 W U 0 O l 4 3 5 W W I 2 I 4 0. 5 OTHER _I ...9. ..O ...I. _I. _O. 33 I8 IS 68 25 23 W on eiTher or boTh number 5 digiTs GROUP 2 GROUP 3 PaTTerns of digiT 5 Profound ModeraTe Profound ModeraTe RighT LefT ConTrol Severe Mild ConTrol Severe Mild U W 3 6 O 3 2 O W U 0 O l 4 3 5 II II I_ .2. _I. 1 O 2 n— 4 - 8 2 ll 5 l0 Frequency .005 .047 .OI3 .0l5 .035 .063 M.R.:ConTrol 8.39:l 2.30:I l.93:l 4.|7:l M.R.:ConTrol 5.5I:I :I (combined by group) ToTaI M.R.:ConTrol 3.67:l 88 among individuals in group 2 Than Those in group 3. Analysis of males wiTh ulnar loops on boTh number I digiTs (group I) A ToTal of 3l9 conTrol males and 268 reTarded males were seen To have ulnar loops on boTh number I digiTs (Table 3|). This yielded a inghTIy higher Than expecTed reTardedzconTrol raTio (l.l5:|). WiThin This general heading, Three Types of Ten-finger paTTerns were observed wiTh subsTanTially higher reTarded:conTrol raTios: I. Males wiTh a whorl on digiT 2 of The righT hand and an ulnar loop on digiT 2 of The lefT hand; 29 reTarded and I7 conTrol individuals had This parTicular paTTern, giving a M.R.:conTrol raTio of 2.33zl. 2. Males wiTh an arch on one number 2 digiT and eiTher an ulnar loop or a whorl on The oTher number 2 digiT (U-A or A-U or W-A or A—W); The combined reTardedzconTrol raTio for These configuraTions was 2.09:I. 3. Males wiTh a whorl on one or boTh number 5 digiTs; The reTarded: conTrol raTio for This paTTern was l.49:l; however when all individuals wiTh The sequence ---WU on one hand (i.e., a whorl on digiT 4 and an ulnar loop on digiT 5) were removed from This group, The M.R.:conTrol raTio increased To almosT 2:l (l.99:|). 89 TABLE 3|. Ten-finger paTTerns of males wiTh ulnar loops on boTh number I digiTs Profound ModeraTe ConTrol Severe Mild Overall n 3l9 I32 I36 frequency .435 .474 .525 M.R.:conTrol |.O9:l l.2l:| ToTal M.R.:conTrol I.|5:l W—U on digiT 2 n I7 l5 I4 frequency .023 .054 .054 M.R.:conTrol 2.02zl 2.I6:I ToTal M.R.:conTrol 2.09zl A-U or U-A or W-A or A-W on digiT 2 n l7 I3 l3 frequency .023 .047 .050 M.R.:conTrol 2.02:l 2.I6:I ToTaI M.R.:conTrol 2.09:l W on eiTher number 5 digiT n 42 29 I7 frequency ' .057 .l04 .066 M.R.:conTrol I.82:| l.l5:l ToTal M.R.:conTrol . |.49:l W on eiTher number 5 digiT, noT ---WU on eiTher hand n 22 22 IO frequency .030 .079 .039 M.R.:conTrol 2.64:l l.29:l ToTal M.R.:conTrol l.99:l . I . . l I 90 Summary of The analysis of Ten-finger paTTerns Table 32 shows The reTardedzconTrol raTios for seven general caTegories of Ten-finger paTTerns seen in excess among menfally reTarded individuals of one or boTh sexes. WiThin Three of These caTegories, Ten-finger paTTerns were furTher analyzed To yield addi- Tional Types of Ten—finger paTTerns found in excess among The reTarded individuals. Chi-square values were assigned To l8 groups of Ten-finger paTTerns lisTed in Table 32. These values were The resulT of l8 differenT 2x2 conTingency Tables, in which The number of conTrol and reTarded individuals wiTh The paTTern in quesTion were compared To The number of individuals wiThouT The paTTern. For example, for individuals wiTh a radial loop on digiT l, The following Table was consTrucTed: PaTTerns oTher Radial loop Than radial loop digiT I on digiT l ToTaI ConTrol 3 I460 I463 ReTarded 2_ _jfifig _jgfii l2 . 22l9 233I Chi square = 7.36 The chi-square values cannoT be accuraTer evaluaTed as sTaTisTical evidence, because in many cases They resuITed from posTerior searches for parTicular Types of Ten-finger paTTerns. However, many of The chi-square values were large enough ThaT iT is clear ThaT evidence VI. 9| TABLE 32. Types of Ten-finger paTTerns found in excess among menTally reTarded individuals females wiTh a whorl on one num- ber I digiT and an ulnar loop on The oTher number I digiT . and wiThouT ulnar loops biIaT- erally on The number 4 digiTs . and a whorl on one or boTh number 5 digiTs . and a whorl on one number 3 digiT and an ulnar loop on The oTher number 3 digiT . and The sequence whorl-radial loop or radial loop-whorl on The number 3 digiTs . and ulnar loops on boTh number 2 digiTs individuals wiTh an arch on aT leasT one number I digiT . and wiThouT an arch or radial loop on eiTher number 2 digiT . and a whorl(s) on any digiT . and 6-IO arches individuals wiTh an arch on aT leasT one number 4 digiT individuals wiTh an arch on aT IeasT one number 5 digiT individuals wiTh a radial loop on one or boTh number | digiTs males wiTh ulnar loops on boTh number I digiTs . and The sequence whorl-ulnar loop on The righT and lefT number 2 digiTs . and a whorl on eiTher number 5 digiT buT wiThouT The sequence ---WU on The oTher hand M.R.: Chi- M.R. ConTrol ConTrol Square 8| IOI I.77: l8.l| 53 46 2.54: 25.38 25 I5 3.67: l8.98 I6 II 3.20: I0.l6 I3 l9 2.09: 9.4I I8 I9 2.09: 5.43 .68 55 2.I2: I8.l0 I7 5 5.73: 27.80 29 I5 3.26: l5.77 20 I2 2.8l: 8.86 5| 4O 2.I5: I4.33 4| 32 2.I6: ll.55 9 3 5.06: 7.36 268 3l9 , I.l5: 5.08 29 I7 2.33: 8.43 32 22 I.99: 6.65 92 TABLE 32 (conTinued) C. and an arch on one number 2 digiT and whorl or ulnar loop on The oTher number 2 digiT 26 I7 2.09:| 6.03 VII. individuals wiTh 6-lO arches 27 25 |.82:l 4.9I 93 supporTs a conclusion of difference beTween conTrol and reTarded individuals. The chi-square values acT as rough indicaTors of The various M.R.:conTrol raTios, by Taking inTo accounT The number of individuals found wiTh The parTicular Type of Ten-finger paTTern under sTudy. For example, The chi-square value for arches on digiT l is greaTer Than ThaT for radial loops on digiT I, even Though The M.R.:conTrol raTio is greaTer for radial loops on digiT I. This reflecTs The facT ThaT many more individuals were seen wiTh arches on digiT l Than wiTh radial loops on digiT l. A comparison of |.0. levels among reTarded groups wiTh respecT To The differenT Types of paTTern combinaTions in excess among reTarded individuals is summarized in Table 33.. This Table lisTs The seven general caTegories in Table 32 again, This Time wiTh respecT To The reTardedzconTrol raTios for The four reTarded groups. From The Table iT can be seen ThaT The raTios are liTTle differenT beTween The profound-severe and moderaTe-mild groups, for all Ten-finger paTTerns excepT Those involving arches. However, among Those Types of Ten-finger paTTerns only, There is a consisTenle elevaTed raTiO' among The profoundly or severely reTarded males when compared To The oTher caTegories (i.e., moderaTely or mildly reTarded males and boTh groups of reTarded males). SelecTion of reTarded individuals To be furTher examined SubsequenT examinaTion of The I8 Types of Ten-finger paTTerns in Table 32 was aimed aT The selecTion of aT leasT one sTudy (i.e., 94 TABLE 33. ReTardedzconTroI raTios among differenT levels of reTardaTion wiTh respecT To seven caTegories of Ten-finger paTTerns seen in excess among reTarded individuals Profound- ModeraTe- Profound- ModeraTe Severe Mild Severe Mild I. Females wiTh a whorl - - l.8l:| |.72:I on one number I digiT and an ulnar loop on The oTher Il. Individuals wiTh an arch on aT IeasT one number I digiT 3.36:l l.67:I 2.06:| l.67:I Ill. Individuals wiTh an arch on aT leasT one number 4 digiT 3.25:I I.74:l 2.36:| 2.04:l IV. Individuals wiTh an arch on aT IeasT one number 5 digiT 3.7|:I I.96:I 2.0l:l 2.I7:| V. Individuals wiTh a radial loop on aT leasT one number I digiT 5.27:I 8.59:| 4.24:l 4.59:I VI. Males wiTh ulnar loops on boTh number I digiTs l.09:| l.2l:l - - VII. Individuals wiTh 6-l0 arches 3.30:l I.42:l l.75:l |.62:| 95 wiTh respecT To physical examinaTion, family hisTory, and possible biochemical or chromosomal abnormaliTies). Two criTeria were used in This selecTion process: I. an obvious excess of reTarded individuals in The group (i.e., a reTardedzconTrol raTio of aT leasT 2:l) 2. a relaTively large number of reTarded individuals in The group (i.e., aT leasT 5% of The ToTal reTarded sample, or 44 indivi- duals). Three of The groups lisTed in Table 32 fiT These criTeria; individuals wiTh an arch on aT IeasT one number I digiT, and females wiTh an ulnar loop on one number I digiT and a whorl on The oTher number | digiT, and females wiTh an ulnar loop on one number I digiT and a whorl on The oTher buT wiThouT ulnar loops bilaTeraIly on The number 4 digiTs. Because of several reporTs which linked The occurrence of excess arches and radial loops wiTh various menTal reTardaTion dis- orders (Lewandowski and Yunis, I975; Preus and Fraser, I972), iT was decided ThaT all individuals wiTh an arch on aT leasT one number I digiT would be furTher analyzed. Subsequenle, individuals wiTh a radial loop on aT IeasT one number I digiT were added To This group. Hence, The evenTuaI group of reTarded individuals selecTed for furTher evaluaTion included all individuals wiTh non-normal ThumbprinT paTTerns (i.e., arches or radial loops). 96 ExaminaTion of reTarded individuals wiTh an arch or radial loop on aT IeasT one number I digiT ForTy-seven reTarded individuals wiTh an arch or radial loop on aT IeasT one number digiT were available for examinaTion; 30 oTher reTarded individuals wiTh an arch or radial loop on digiT I had been eiTher released from insTiTuTional care or had died. The 47 indivi- duals consisTed of 28 males (I2 profoundly reTarded, l2 severely reTarded, Three moderaTely reTarded, and one mildly reTarded) and I9 females (Ten profoundly reTarded, six severely reTarded, and Three moderaTely reTarded). SubsequenT examinaTion included a physical evaluaTion of all individuals, review of all Their records (wiTh respecT To previous physical examinaTions, family and developmenTal hisTories, and resulTs of urine and blood screens for meTabolic errors), and cyTogeneTic analysis. A summary of The findings is shown in Table 34. Physical examinaTion TwenTy-one of The 47 individuals were found To have mulTiple physical anomalies (i.e., Three or more). Of The remaining 26, I3 had Two abnormaliTies and six individuals had one abnormaliTy. Seven individuals appeared To be free of any physical sTigmaTa. The mosT commonly seen abnormaliTies included high arched palaTe (I8/47), malformed or low—seT ears (8/47), sTrabismus (8/47), broad nose (8.47), crypTorchidism (8/28 males; four bilaTeral and Three uniIaTeral), endophThalmus (7/47), seizures (6/47), and scoliosis Case N—__——_—_—— OKOCDNONU‘I-bUJN—OOCDNONUT-bUJN— NNNNN UT-b-LNN— NNN CD\l0\ WM 00 WWWUIUJLNUJUJLN \OCDNO‘IU‘I-bblN— TABLE 34. reTarded individuals wiTh an arch or radial 97 Summary of findings among 47 menTally on aT IeasT one number I digiT Ten-finger paTTern RAAUU UAUUU UAAUU UAAAU RWWWW AUUWU UAAWU AUAUU AAAAA AUUAU WAAAU ARUUU RAUWA UUUUU AAAAU AUAUU UUUUU AAUUU AAUUA UWWWW AUAWU UUAUU URWWU UWUWU AAAWU UAUWU URUWU WAUWU URRUU AAAAA UUUUU ARUWW ARWUU UUUUU UAUWU AAUWU UUUUU UWWWU AAUUU UAAUU AAUUU AAAUU AAAAU WWWWW AUUUU AAAUU AAUAU AAAAA ARAAA RAAAU URUUU WAAWU AUAUU AAAAA AAAUU ARAUU AAAUU UUUUU ARWWW UAUWU AUAAU RWWWU AUUUU UAUUU AAUWW ARUUU AAUAU ARUUU AAAAA AUUUU AAUWU ARWUA AAUUA AUUWW UUUWU AUWWW AWUUU AAUAA Level of MaT. age Sex Age ReTardaTion aT birTh M I7 severe 38 F 48 severe 34 M 20 profound 35 M 25 severe 33 M 20 severe 25 M 25 severe 35 F 38 profound 25 M l6 profound 3| M l3 severe, 23 M 24 profound 25 F 22 profound 22 M 56 moderaTe I8 F 29 severe l9 F 67 profound 22 F 3| profound 28 F l7 profound 23 M l7 profound unknown M l6 profound 36 F 3| profound unknown M I5 profound 22 M l5 profound 27 F 26 severe 27 M 26 moderaTe unknown M 22 profound 27 M 3| profound 35 M 37 mild 20 F I8 profound 34 M 49 severe 28 M 35 severe 38 M 34 severe 37 F 20 profound 34 F l7 moderaTe l7 F 22 profound 30 M I5 moderaTe 22 F 6 profound 20 M 54 severe l8 M 39 severe 27 M II severe 25 M 2| profound 3| loop PaT. age aT birTh 38 34 34 35 26 44 22 42 38 32 26 28 2| 26 33 30 unknown 32 unknown 22 34 32 unknown 33 43 3| 36 44 37 29 44 22 28 22 22 22 32 25 33 TABLE 34 (conTinued) Case no. 40. 4|. 42. 43. 44. 45. 46. 47. Ten-finger paTTern AAAAA UUUWW AAAAA ARAUU AAAUU UUUUU UAUUU UUAUU AAAAA AUUWW AAAAA UAAUU AAAWW AAAUU AAUUU AAAAA 98 Level of MaT. age Sex Age ReTardaTion aT birTh F 47 moderaTe 25 F 25 moderaTe 22 F . I7 severe 27 M 20 severe 26 F 58 severe 26 M l0 profound 25 M I8 profound unknown F 33 severe 23 PaT. age aT birTh 29 29 29 3| 28 26 unknown 24 TABLE 34 (conTinued) Case no. N—————-—————- OkOCIDNO‘IUT-hUJN—OOCDVOU'IhUJN— N NNNNN OUTDOLNN WNNN oomfl U404 N— UIILNUJLNUJ \IO‘TUT-bbl LNUJ \OCJ BirThweighT (lbs. - oz.) 7 - l4 6 - 8 7 - 2 7 - l4 6 - 3 2 - I 6 - I3 unknown 6 - 3 unknown 8 - 3 9 - 8 6 - l2 4 - 8 5 - O 6 - l2 8 - 4 6 - IO 6 - 2 6 - 8 8 - 4 6 - O 7 - O 6 - O 9 — 8 8 - 4 7 - 3 8 - 0 6 - 8 8 - 9 5 - 9 6 - 4 7 - l 7 - 3 7 - l2 7 - O 6 - 5 7 - 8 7 - 5 Chromosome analysis 99 47,XY +dic. 47,XX +dic., 46,XY (I5q+) 47,XX +mar. 46,XY 46,XY 46,XX 46,XY 46,XY 46,XY 46,XX 46,XY 46,XX 46,XX 46,XX 46,XX 46,XY 46,XY 46,XX 46,XY 46,XY 46,XX 46,XY 46,XY 46,XY 46,XY 46,XX 46,XY 46,XY 46,XY 46,XX 46,xx 46,XX 46,XY 46,XX 46,XY 46,XY 46,XY 46,XY Biochemical abnormaliTy Family hisTory unknown unknown IOO TABLE 34 (conTinued) Case BirThweighT Chromosome Biochemical Family no. (lbs. - oz.) analysis abnormaliTy hisTory 40. 8 - 4 46,XX - - 4|. 8 - O 46,XX - - 42. 7 - 0 46,XX - - 43. 7 - I5 46,XY rnmco. 44. unknown 46,XX - - 45. 3 - I5 46,XY - — 46. 7 - IO 46,XY - unknown 47. 8 - o 46,XX - - IOI TABLE 34 (conTinued) Case \OCI)\IO\UIJ>UJN- ll. l2. l3. l4. l5. I6. l7. l8. I9. 20. 2|. 22. 23. 24. 25. 26. 27. 28. 29. 30. 3|. 32. 33. STigmaTa high arched palaTe, seizures, varus of heel seizures, increased carrying angle high arched palaTe, scoliosis, epicanThus, pecTus excavaTum r. crypTorchidism, low anT. hairline, pecTus excavaTum, broad nose high arched palaTe, sTrabismus endophThalmus, blind misshapen ears broad nose, endophThalmus, proTruding Tongue, clinodacTny high arched palaTe, misshapen ears, broad nose, anTimongoloid slanT, crypTorchidism, shorT liTTIe fingers dolicheocephaly, synophoris, arachnodacTyly, broad nose, bulbous greaT Toes scoliosis, seizures high arched palaTe, hearT defecT seizures sTrabismus, microphThalmia broad nose, prognaThia, juvenile exT. geniTalia high arched palaTe, microcephaly, exophThalmus none high arched palaTe, crypTorchidism, prognaThia scoliosis crypTorchidism, hypospadias, dexTrocardia, seizures l. eye microphThalmic, misshapen ears, facial asymmeTry sTrabismus, epicanThus, broad nose none r. crypTorchidism, high arched palaTe sTrabismus, endophThalmus none prognaThia high arched palaTe, fronTaI bossing synophoris high arched palaTe,pprognaThia, misshapen ears, endophThalmus high arched palaTe, fronTal bossing, scoliosis, enlarged cliToris and underdeveloped labia, broad nose sTrabismus, endophThalmus, absenT eyelashes, webbed neck, hearT murmur, increased carrying angle high arched palaTe, misshapen ears, seizures, epicanThus, facial asymmeTry, anTimongoloid slanT, hirsuTe l02 TABLE 34 (conTinued) Case no. 34. 35. 36. 37. 38. 39. 40. 4|. 42. 43. 44. 45. 46. 47. STigmaTa high arched palaTe, misshapen ears, pTosis, low anTerior hairline high arched palaTe, blind, microcephaly, seizures, microcephaly, nysTagmus, increased carrying angle none crypTorchidism, broad nose high arched palaTe, sTrabismus, misshapen ears, crypTorchidism, supernumerary digiT none none none microcephaly, sTrabismus broad nose, misshapen ears endophThalmus high arched palaTe, anTimongoloid slanT, facial asymmeTry, crypTorchidism, microcephaly, pTosis, epicanThus high arched palaTe, endophThalmus, scoliosis brachycephaly, low posTerior hairline I03 TABLE 35. RelaTionship beTween level of menTal reTardaTion and The number of physical abnormaliTies among individuals wiTh an arch or radial loop on aT leasT one number I digiT Level of reTardaTion 9_ I. 2_ 3 or more ToTaI profound 2 3 4 I3 22 severe l 3 7 7 I8 moderaTe 3 O 2 l 6 mild I 0 O O l ToTal 7 6 I3 2| 47 (5/47). A posiTive correlaTion was seen beTween progressively severe reTardaTion and The number of physical abnormaliTies (Table 35). Because of The high frequency of crypTorchidism observed among The males of This group, These eighT individuals wiTh crypTorchidism were re-examined To deTermine if any oTher physical sTigmaTa were common To Them. ExcepT for The presence of high arched palaTes in five of The eighT and broad noses in Three of The eighT, no such similariTies were observed. Subsequenle, one of The eighT was seen To have a biochemical abnormaliTy (case number l4), and one was seen To have a chromosome abnormaliTy (case number 4). IO4 Family and biochemical daTa ParenTal ages aT The Time of birTh were available for 43 of The 47 individuals. The mean paTernaI age was 30.9 i 6.6; The mean maTernal age was 27.| i 5.9. However, among parenTs of four individuals wiTh chromosome abnormaliTies, The mean parenTal ages were increased (mean paTernal age = 35.3; mean maTernal age = 35.0). BirThweighTs were available for 43 of The 47 individuals, including four reporTed as premaTure (cases 2, 6, I4, 45). The mean value for 26 males was 7 lbs. l.3 oz. i I9.4 oz.; The corresponding value for l8 females was 6 lbs. ll.3 oz. 3 25.4 oz. ExaminaTion of family hisTories wiTh respecT To occurrence of menTal reTardaTion revealed posiTive findings for five of The 47 families (cases 8, 9, 25, 28, 43). Pedigrees for These families are shown in Figure 7. ATTemst To iniTiaTe family sTudies were largely unsuccessful, due eiTher To deaTh or unavailabiliTy of informaTive family members. The sisTer of case 25, however, was examined for possible dermaToglyphic abnormaliTies and oTher physical sTigmaTa. Like her broTher, she was seen To be profoundly reTarded (I.Q. = 20; STanford-BineT) and exhibiTed endophThalmus. FurThermore, dermaTo- glyphic analysis revealed a radial loop on her lefT fourTh digiT (Ten-finger paTTern - UUUUU UUURU); while This is a finding dissimilar To ThaT of her broTher, iT musT neverTheless be considered as an abnormaliTy, since The presence of a radial loop on digiT 4 is rare among normals. The maTernal uncle of case 43 was also examined; he exhibiTed no dermaToglyphic, physical, or biochemical abnormaliTies. . . . _c _ _Em+ omo:2 m+c_canE:L+ mEcOc m _3 m m: _>_ c_ m cm mc o>_ EOE mmoc _ooa >__Emm .h mmso_u IO6 ResulTs of serum and urine screens obTained from The records of The 47 individuals showed abnormaliTies in Three of The individuals (6.4%). Two of The Three individuals TesTed posiTive for mucopoly- saccharides (cases 9 and 43), and The Third showed an increase in phenylalanine excreTion. On physical examinaTion, however, The firsT Two individuals showed no characTerisTics Typical of any of The mucopolysaccharides;'nor did The Third individual display any feaTures CharacTerisTic of phenylkeTonuria. Family hisTories of all Three individuals were posiTive wiTh respecT To occurrence of menTal reTardaTion (Figure 7). HOwever, aTTemst To sTudy The families furTher were unsuccessful. CyTogeneTic evaluaTion ForTy-Three of The 47 individuals examined were seen To have normal chromosome consTiTuTions (25 normal males; I8 normal females). Four individuals were observed wiTh chromosome abnormaliTies, all involving acrocenTric chromosomes. Cases l and II each had an addiTionaI chromosome which was bisaTelliTed and apparenle dicenTric. Case III had an exTra band on a chromosome l5. Case IV was seen To have an exTra chromosome, approximaTer The same size as a G-group chromosome. Case reporTs and deTaiIed cyTogeneTic descripTions of These four individuals follow. Case I The proposiTus is a l7 year old severely reTarded Caucasian male. He was born To a 38 year old, gravida 4, para 3 female, and |07 a 38 year old male. BoTh The proposiTus' sibs are phenoTypically normal. The pregnancy was complicaTed by severe vaginal bleeding aT Three monThs which lasTed one week. OTherwise The pregnancy was uneveanul, and There is no reporT of any hazardous exposure, infecTion, or unusual medicaTion. Delivery was aT full Term and normal; birTh weighT was 7 lbs. l4 oz. ExcepT for an unusually shrill cry, no unusual feaTures were noTed aT birTh or in The neonaTal period. The proposiTus saT aT IO monThs and walked aT I5 monThs; he has never acquired speech. AT age 5 he was dismissed from a special educaTion class because of hyperacTiviTy and desTrucTive behavior; he was admiTTed To a menTaI reTardaTion insTiTuTion aT age 9. AT age IO he was reporTed To have had a seizure, and was hospiTalized for obser- vaTion. No seizures were observed, and an EEG Taken aT ThaT Time revealed no obvious abnormaliTies. Over The nexT few years, however, The proposiTus was reporTed as having several seizures, and an EEG Taken aT age l6 revealed a generalized dysrhyThmia. The proposiTus is presenle receiving anTi-convulsive medicaTion daily. Physical examinaTion revealed a severely reTarded male (I.Q.=24; STanford-BineT) wiTh few obvious physical abnormaliTies (Figure 8). HeighT (65 inches), weighT (Il4 lbs.), and head circumference (2| l/4) were all in The low normal range. Observed physical sTigmaTa included a high arched palaTe, broad nasal bridge, and minimal varus of The heel. Previous reporTs had indicaTed sTrabismus, buT This was noT apparenT. No oTher unusual feaTures were noTed. Urinalysis and C.B.C. values were normal. I08 FIGURE 8. Case |O9 CyTogeneTics Giemsa-Trypsin banded preparaTions revealed an addiTional acrocenTric chromosome midway in size beTween a D and G group chromo- some (Figures 9 and I0). The exTra chromosome was presenT in all cells examined. Two bands were consisTenle seen on The addiTional chromosome, one in The cenTromeric region and one aT The disTaI end of The long arm. This banding was consisTenT wiTh ThaT of a deleTed chromosome l5 wiTh a break Through, or jusT disTaI To, band q2l (Paris Conference, I97l). Therefore, a TenTaTive diagnosis of parTial Trisomy for The proximal segmenT of chromosome l5 seemed reasonable. However, a subsequenT examinaTion of quinacrine banded preparaTions revealed The addiTional chromosome To be bisaTelliTed, suggesTing a more complex rearrangemenT. This was confirmed by sequenTial quinacrine To cenTromeric banding, in which The exTra chromosome was seen To have Two disTincT cenTromeric bands, corre— sponding To The Two bands seen wiTh giemsa-Trypsin banding (Figure ll). Because of The known insTabiliTy of dicenTric chromosomes (Sears and Camara, l95l), aTTemst were made To demonsTraTe The presence of an addiTlonaI cell line. However, evaluaTion of IOO cells from Three differenT blood culTures showed no evidence for mosaicism. The dicenTric chromosome was occasionally missing from a division, buT This was apparenle due To random loss as iTs fre- quency (7/l00) was approximaTely The same as The oTher acrocenTrics. IIO II. 0.0 I. ‘0‘ II 7). o IQ... I 00' ‘4‘. .83.! O» ..s Iqu .8 .- 10' ..Q Giemsa-Trypsin banded karyoType of Case I FIGURE 9. .e.o ~o o 00 I .0.0 ~00 0 0 .0.0 ciao M n «In M a n FIGURE I0. ParTiaI karyoType of cases I and II, using sequenTial 0 To C banding Il2 O ‘06- .‘o I C’ .5. tblto. .... ‘1 i! :5 \" ca 1L IID" ' Ii II. I. .. - Ms ‘1. FIGURE II. ParTial giemsa-Trypsin banded karyoTypes of cases I and II I I. . _ . Il3 OTher sTudies were carried ouT To deTermine wheTher one or boTh of The cenTromeres was regularly consTricTed. This was faciIiTaTed by The facT ThaT one of The Two pairs of saTelIiTes consisTenTIy sTained more inTensely Than did The oTher (Figure II), allowing easy discriminaTion beTween The Two posiTively sTaining C-band regions. Analysis of The Two cenTromeres showed ThaT only The cenTromere closesT To The less inTenser sTaining saTelIiTes was ever consTricTed. ExaminaTion of blood culTures from The proposiTus' parenTs revealed no obvious abnormaliTies. ATTemst To use chromosome heTero- morphisms in order To specify The parenTal origin of The exTra chromo- some were unsuccessful. DermaToglyphic analysis of The parenTs revealed no unusual findings in The moTher; The faTher, however, had arches bilaTerally on The number I digiTs. Case II The proposiTa is a 48 year old, severely reTarded female. She was The producT of a pregnancy beTween a 30 year old, gravida 3, para 2 female, and a 30 year old male. The couple subsequenle had anoTher child Three years laTer; boTh of The proposiTa's sibs are phenoTypi- cally normal and have normal children Themselves. The pregnancy was complicaTed by Two insTances of hemorrhaging during The firsT Trimesfer, and an acuTe gall bladder infecTion combined wiTh bronchiTis during The sevenTh monTh. The delivery was normal and was reporTed as one monTh premaTure. BirTh weighT was 6 lbs. 8 oz. No unusual feaTures were noTed aT birTh or in The early |l4 neonaTal period. AT Ten weeks of age, The proposiTa became ill wiTh whaT was diagnosed as influenza, and suffered a period of convulsions IasTing Two days. She firsT saT aT l3 monThs, walked aT 24 monThs and Talked af 3 years. She was admiTTed To an insTiTuTion for The menTalIy reTarded aT age 6. On admission and over The nexT few years, she was reporTed as being hyperacTive and desTrucTive. Menses began aT l4 and were normal. Major moTor seizures began aT age I8 and occurred frequenle (averaging approximaTely one per monTh) over The nexT I2 years. An EEG Taken aT 39 showed spiking; subsequenT EEG's Taken aT 45 and 46 were inTerpreTed as having no obvious abnormaliTies. The seizures have now been conTrolled wiTh medicaTion, and no episode has been reporTed in The lasT l0 years. The proposiTa presenTIy funcTions in The severe range of reTardaTion, wiTh an I.O. of 24 (STanford-BineT). Physical examinaTion revealed few obvious abnormaliTies (Figure I2). She is shorT (59 inches), buT values for weighT (ll2 lbs.) and head circumference (22 I/2 inches) were wiThin normal limiTs. Unusual physical feaTures seen included mulTiple nevi of The face and chesT, and an increased carrying angle aT The elbow. The disTaI porTion of The Third digiT on The lefT hand was bulbous and The nail hypoplasTic, buT This may have resulTed from an injury. No oTher sTigmaTa were noTed. Urinalysis and C.B.C. values were normal. FIGURE l2. Case II ll6 CyTogeneTics Giemsa-Trypsin banded analysis revealed an addiTional acrocenTric chromosome inTermediaTe in size beTween a D and G group chromosome. A parTial G-banded karyoType of The proposiTa's acrocenTric chromosomes, including The exTra chromosome, is given in Figure IO. The addiTional chromosome was seen in all cells examined. In mosT preparaTions Two bands were seen, one aT The apparenT cenTromere aT one aT The disTaI end of The long arm. However, in some early meTaphase or laTe prophase divisions an addiTionaI, fainT, band was seen close To The apparenT cenTromere. Analysis wiTh quinacrine banding showed The exTra chromosome To be bisaTelliTed. SubsequenT quinacrine To cenTromeric banding showed Two bands, corresponding To The Two obvious bands seen wiTh giemsa-Trypsin banding. Two repeaT samples were analyzed, wiTh no indicaTion of mosaicism (The exTra chromosome was seen in 95 of IOO cells examined from The Three culTures). ExaminaTion of The Two cenTromeric bands (wiTh cenTromeric banding) showed ThaT only The one closesT To The fainT G-band was regularly consTricTed. KaryoTypes of The proposiTa's moTher, sisTer, and broTher were all normal; The faTher is no longer living. DermaToglyphics of The proposiTa's moTher and sisTer were noT unusual. Case Ill The proposiTus is a 20 year old profoundly reTarded male wiTh mulTipIe congeniTal abnormaliTies. He was The sevenTh born in a Il7 sibship of Ten. MaTernal and paTernal ages aT The Time of birTh were 35 and 34, respecTively. There is no hisTory of sponTaneous aborTions in The family, and all The proposiTus' sibs are reporTed as pheno- Typically normal. The pregnancy was uneveanul and was complicaTed only by exposure To X-rays during The fifTh monTh. The delivery was aT Term and normal, and no unusual feaTures were noTed aT ThaT Time. BirThweighT was 7 lbs. 2 oz. Early developmenT was noT markedly delayed. The proposiTus saT aT eighT monThs and walked aT one year. However, he is sTilI noT ToileT Trained and has no speech. He was admiTTed To an insTiTuTion for The menTaIly reTarded aT age seven. Physical examinaTion revealed a small, reTarded male (I.O. = I8; CaTelI) wiTh mulTiple abnormaliTies (figure I3). HeighT was 60 I/2 inches, weighT IIO lbs., and head circumference 22 inches. Observed physical abnormaliTies include a sligthy asymmeTric face, high arched palaTe wiTh malocclusion, minimal pecTus excavaTum, pronounced Thoracic kyphosis, bilaTeral syndacTny of The second and Third Toes, hyperacTive deep Tendon reflexes, and bilaTeral posiTive Babinski signs. An EEG Taken aT age 5 showed a paroxysmal disTurbance in The righT posTerior hemisphere; however, he has never had a seizure. Urinalysis and C.B.C. values were normal. CyTogeneTics Analysis of giemsa-Trypsin banded meTaphases revealed ThaT The long arm of one of The chromosome I5's was consisTenTIy longer Than ||8 ___ ommo .m. mmzw_m |l9 iTs homologue (Figure I4). A comparison of The Two homologues showed ThaT The disTances from The beginning of band q2l To The cenTromere, and from The end of band q2l To The disTal end of The long arm, were approximaTely The same for boTh. However, band q2l iTself (and perhaps some of The bordering inTerband maTerial) is apparenle presenT in duplicaTe on The abnormally long chromosome l5. ExaminaTion of The parenTal karyoTypes revealed no abnormaliTies in eiTher one. DermaToglyphics of The proposiTus' parenTs were noT unusual, excepT ThaT The moTher had an ulnar loop wiTh a low ridge counT on her lefT firsT digiT. Case IV The proposiTus is a 25 year old severely reTarded male. He was born To a 33 year old female and a 35 year old male, and was Their firsT child. The couple subsequenle had Three more children, all of whom are reporTed as normal and in good healTh. AddiTionaIly, Three sponTaneous aborTions have been reporTed, all occurring aT abouT 2 I/2 monThs;informaTion concerning The posiTioning of These aborTions wiTh respecT To The oTher pregnancies was noT available. The pregnancy was reporTed as normal. ‘The moTher received viTamins and medicaTion for weighT conTrol; oTherwise, no unusual complicaTions were reporTed. The delivery was aT Term, and forceps were used. The birThweighT was 7 lbs. l4 oz. The proposiTus was kepT in The hospiTal for four weeks following birTh, buT informaTion regarding The reason for This was noT available. l20 m__oo _6co_+_uum 03+ EOL+ m.m_% +0 mc_ma 03+ ocm +cm_c oc+ +m moEOmOEOLLU c30+ oc+ u___ ommo +0 oa>+o>cmx noocmn c_ma>c+ImmEo_o .v_ mmao_m I ‘ ”a“ C O a c C C. . ‘49 Mr "II ”J ”3‘ t’\., t 1“ ."t‘ )"In IL.- I“ .u“ an |2| DevelopmenTal milesTones were noT markedly delayed. The propos- iTus saT aT seven monThs, walked aT II monThs, and was ToileT Trained aT Two years. However, he did noT begin To speak unTil age Two years, and sTilI uses only a few words. The proposiTus was admiTTed To an insTiTuTion for The menTally reTarded aT age l3. He presenle funcTions in The severe range of menTal reTardaTion, wiTh an |.O. of 3| (STanford- BineT). Physical examinaTion revealed a severely reTarded male wiTh mulTipIe anomalies. HeighT was 68 I/2 inches, weighT I43 lbs., and head circumference 22 inches. Abnormal facial feaTures included a low anTerior hairline, a bulbous nose, and endophThalmus. OTher sTigmaTa included pronounced pecTus excavaTum, and an undescended righT TesTis. Urinalysis and C.B.C. values were normal. CyTogeneTics Analysis of giemsa-Trypsin banded meTaphases revealed an addiTional chromosome, approximaTely The same size as a G group chromosome, in all divisions examined (Figure I5). However, The banding paTTern of The exTra chromosome was noT consisTenT wiTh eiTher a chromosome 2| or 22. SubsequenT analysis using quinacrine banding definiTely showed The addiTional chromosome To be saTelIiTed, indicaTing an acrocenTric origin. ATTemst To elucidaTe The origin of The exTra chromosome were noT successful. The parenTs were noT available for cyTogeneTic evaluaTion. I22 >_ ommo +0 oa>+o>cmx noncmn c_ma>c+immso_o .m_ mm30_d 0‘ h.- 0. .. . ‘0 ‘- au .. «a .1 #2015 Cox .0 “ ' “ “.7. r U DISCUSSION ResulTs of previous dermaToglyphic sTudies of conTrol Caucasian populaTions are summarized in Table 36. Mean values for ToTal finger ridge counT and paTTern inTensiTy are in good agreemenT wiTh Those values found in The presenT sTudy (Figures 3, 4, 5, 6). AddiTionaIly, The frequency disTribuTions of The four digiTal paTTerns closely approximaTe Those of The presenT sTudy (Table II). Previous sTudies 0f fingerprinT paTTerns among non-specific menTally reTarded individuals have dealT primarily wiTh frequency disTribuTions of The four paTTern Types, and have yielded conTra- dicTory findings. The early sTudies of Bonnivie (I927) and Blumel and Poll (I928) showed decreases in whorls, on aT IeasT some of The digiTs, among The reTarded individuals. The sTudies 0f Lu (I968) and Saksena and MaThur (I974), however, found an overall increase in boTh whorls and arches, and a decrease in ulnar loops. In The sTudy of AlTer (I966), no significanT differences were noTed beTween The conTrol and reTarded individuals. He did, however, find a slighT increase in whorls and an accompanying decrease in ulnar loops among boTh The male and female reTarded groups. In The presenT sTudy, an analysis of I463 conTrol individuals and 868 menTally reTarded individuals revealed The following signi- ficanT differences beTween The conTrol and reTarded groups: I23 |24 TABLE 36. Normal values for TOTal finger ridge counT, paTTern inTensiTy, and frequency of digiTal paTTern Types among Caucasian individuals ToTal finger ridge counT (mean values)I males females (n=l5l9) (n=l523) l4l.3O l24.94 PaTTern inTensiTy (mean values) males females l II.8 Il.4 2 males and females (n=5000) |2.I Frequency disTribuTion of digiTal paTTern Types3 males females (n=358) (n=358) ulnar loop .6l9 .645 whorl .288 .264 radial loop .052 .037 arch .040 .054 'HoIT (I968) 2Cummins (I943) 3PlaTo eT al. (I975) l25 TABLE 36 (conTinued) Frequency_disTribuTion 0f paTTern Types on The Ten digiTs3 Males (n=358) RighT Hand . LefT Hand l 2 3 4 5 I 2 3 4 5 Ulnar loop .555 .324 .740 .522 .8I3 .668 .369 .7l0 -63I .868 Whorl .43I .349 .I87 .455 .I79 .299 .332 .I73 .346 .I37 Radial loop .000 .2l5 .022 .0l4 .000 .003 .232 .028 .006 .000 Arch .0l5 .ll2 .050 .008 .008 .O3I .067 .089 .0l7 .006 Females (n-358) RighT Hand ‘ LefT Hand I 2 3 4 5 l 2 3 4 5 Ulnar loop .598 .4I3 .8lO .570 .855 .635 .363 .735 .609 .869 Whorl .372 .330 .l26 .400 .I3I .3I5 .332 .l62 .358 .IO9 Radial loop .000 .I34 .OI4 .020 .000 .003 .I73 .Ol4 .Oll .OOO Arch .O3I .l23 .050 .OII .OI4 .048 .l3l .089 .022 .022 3PlaTo (I975) I26 I. among The reTarded males, There was an overall increase in The frequency of arches and a decrease in whorls 2. among The females, There was an increase in boTh arches and whorls, and a decrease in ulnar loops. If The findings of The males and females are combined for boTh The conTrol and reTarded groups, Three differences are seen beTween The conTrol and reTarded groups - an overall increase in boTh arches and whorls, and a decrease in ulnar loops. This finding is in good agreemenT wiTh The reporTs of Lu (I968) and Saksena and MaThur (I974), for which males and females were analyzed TogeTher. However, iT does noT coincide wiTh The findings of Bonnevie (I927), Blumel and Poll (I928), or AlTer (I966). In parT, The differences seen beTween The presenT sTudy and These Three sTudies may be relaTed T0 differences in The populaTions sampled. The sTudies of Bonnevie (I927) and Blumel and Poll (I928) were noT conTrolled wiTh respecT To Type of reTardaTion, and may have included individuals who would have been screened from The presenT sTudy (e.g., Down's syndrome, which is known To be associaTed wiTh decreased frequency of whorls). However, differences seen beTween The presenT sTudy and ThaT of AlTer (I966) are noT easily explained, since in ThaT sTudy all individuals were screened To rule possible geneTic 0r environmenTal disorders. IT is possible ThaT These differences may be parTIy due To The changing sTrucTure of The insTiTuTional populaTion in Michigan during The Time of The presenT sTudy (i.e., increasing proporTion of more severely reTarded individuals); This seems unlikely, however, I27 in IighT of The facT ThaT IiTTle difference was seen beTween The various levels of reTardaTion wiTh respecT To disTribuTion of The four paTTern Types. AlTernaTely, The differences beTween AlTer's sTudy and The presenT sTudy may be parTially a reflecTion of The differences in sample sizes. AlTer's sTudy included analysis of only 200 conTrol individuals (IOO of each sex) and 376 reTarded individuals (2l3 males, I63 females). WiTh respecT To The rarely occurring paTTerns (i.e., radial loops and arches), such a small sample size may be inadequaTe To accuraTely deTermine wheTher differences exisT beTween The conTrol and reTarded groups. FingerprinT paTTern combinaTions in excess among menTaIIy reTarded individuals ExaminaTion of fingerprinT paTTern disTribuTion and paTTern combinaTions led To The deTecTion of l8 Types of Ten-finger paTTerns in excess among The reTarded individuals of eiTher 0r boTh sexes (Table 32). Such paTTerns fall inTo Two general caTegories: Those in which a rarely seen paTTern Type (i.e., an arch or radial loop) is found eiTher in increased frequency or on a digiT oTher Than expecTed, and Those in which an unusual paTTern combinaTion is found. In The former caTegory, almosT all Ten-finger paTTerns seen in excess among The reTarded individuals involve The presence of one or more arches. The occurrence of arches has been relaTed To a weak volar pad developmenT (Hirsch and Schweichel, I973), and excess numbers of arches have been seen in associaTion wiTh boTh geneTically and |28 environmenTally caused disorders (AlTer, I966). Thus iT seems likely ThaT The excess of arches (or unusual locaTion of arches) seen among The menTally reTarded individuals resuIT from heTero- geneous developmenTaI disTurbances affecTing volar pad developmenT. However, a comparison of I.Q. levels among reTarded individuals wiTh such Ten-finger paTTerns suggesTs The possibiliTy of a specific facTor relaTed To arch producTion. For while no obvious differences were seen beTween The differenT levels of reTardaTion wiTh respecT To ToTaI finger ridge counT, paTTern inTensiTy, or overall frequency of The four paTTern Types, There is an increase in The frequency of profoundly or severely reTarded males for almosT all Ten-finger paTTern caTegories involving arches (Table 33). One possible explanaTion for The observed difference in These raTios would be The presence of X-Iinked menTal reTardaTion disorders associaTed wiTh profound or severe menTal reTardaTion and changes in fingerprinT paTTerns. Under such a scheme, The presence of arches in Ten-finger paTTerns of reTarded individuals would resuIT from one of Three mechanisms: I. normal familial Transmission of such paTTerns 2. auTosomal errors (eiTher single gene or chromosomal) or environ- menTal facTors leading To The producTion of such Ten-finger paTTerns; such facTors would accounT for The increase of These paTTerns in The reTarded females and moderaTely or mildly affecTed males, and for parT of The increase among The more severely affecTed males l29 3. X-Iinked menTal reTardaTion associaTed wiTh severe or profound reTardaTion and fingerprinT abnormaliTies; This would accounT for The furTher increase in such paTTerns seen among The more severely affecTed males. STudies of fingerprinT paTTerns in families apparenle posiTive for X-linked reTardaTion would be insTrucTive in deTermining The validiTy of This Thesis. For such families, iT would be expecTed ThaT The affecTed males would have a higher frequency of arches Than would Their normal sibs. UnforTunaTely, in The presenT sTudy There is liTTle daTa ThaT would serve To TesT This hypoThesis; of The five families wiTh posiTive hisTories for menTaI reTardaTion, only one appears consisTenT wiTh an X-linked mechanism (Figure '7). FacTors relaTed To The producTion of unusual paTTern combinaTions among The menTally reTarded individuals (i.e., The second caTegory 0f Ten-finger paTTerns seen in excess among The reTarded individuals) are noT readily apparenT. Among The males, The increased occurrence of ulnar loops bilaTeralIy on The number I digiTs may, in parT, be relaTed To disTurbances in volar pad developmenT, since The resulTanT paTTern combinaTions involve less complex paTTerns. Among The reTarded females, however, Those Ten-finger paTTerns seen in excess generally involve an increase in more complex paTTerns, and cannoT be explained by The same mechanism. FacTors relaTed To The producTion of such facTors are noT obvious. I30 ExaminaTion of individuals wiTh a radial loop or arch on aT leasT one number I digiT ForTy-seven menTally reTarded individuals wiTh an arch or radial loop on aT IeasT one number I digiT were examined in an aTTempT To discover similariTies (wiTh respecT To family hisTories, possible biochemical or chromosomal abnormaliTies, and physical sTigmaTa) indicaTive of menTal reTardaTion syndromes. Mean paTernaI and maTernal ages aT birTh were 30.9 i 6.6 and 27.l i 5.9, respecTively; These are in good agreemenT wiTh corresponding values seen in The conTrol Caucasian populaTion (mean paTernal age = 30.7; mean maTernal age = 28.7; HamerTon, l97l). The mean birThweighT for The reTarded males in This group was 7 lbs. l.3 oz. i I9.4 oz. and for females was 6 lbs. ll.3 oz. i 25.4 02. These values are somewhaT lower Than The corresponding conTrol values (males- 7 H>.8 02.; females - 7 lb. 4 02.; Alean and DiTTmar, I962). Upon physical examinaTion, 40 of The 47 reTarded individuals (85.l%) were felT To have one or more abnormal physical feaTures. This frequency is much greaTer Than ThaT noTed by Hanefeld (I972), who found abnormal clinical findings in only 93 of I63 non-specific menTally reTarded individuals (57.l%). The mosT frequenT clinical findings in Hanefeld's sample were epilepsy (24%), microcephaly (IO.4%), and hydrocephaly (8.5%). In our sTudy The mosT frequenle seen abnormaliTies were high arched palaTe (38.3%), malformed ears (l7.0%), crypTorchidism (28.6% of males), and endophThalmus (I4.9%); seizures occurred in l2.8% of The 47 individuals, microcephaly in l3| 8.5%, and hydrocephaly was noT seen. Differences beTween our sTudy and Hanefeld's may reflecT real biological differences beTween The Two groups of individuals sTudied, buT are probably also parle due To differing definiTions of whaT consTiTuTes an abnormal clinical finding. However, Two abnormal findings (i.e., crypTorchidism and chromosome abnormaliTies) were seen in such high frequencies in The presenT sTudy ThaT They are considered separaTely below. Incidence of crypTorchidism BilaTeraI or unilaTeral crypTorchidism is seen in less Than I% of all males over l2 monThs of age (Beeson and McDermoTT, |967). However, among 28 reTarded males wiTh an arch or radial loop on a number I digiT, 8 (28.6%) were seen wiTh eiTher bilaTeral or unilaTeral crypTorchidism. This frequency is also higher Than ThaT seen among reTarded males in general. Of I30 reTarded males randomly selecTed from The Oakdale CenTer, only 7 (5.4%) had crypTorchidism. The difference beTween The randomly selecTed group and The group ascer- Tained Through abnormal ThumbprinT paTTerns was found To be signifi- canT aT p=.0l (Table 37). This may acTually underrepresenf The difference beTween These Two groups, since The fingerprinT paTTerns of The randomly selecTed group were noT known beforehand, and some of The individuals wiTh crypTorchidism conceivably may also have had abnormal fingerprinT paTTerns (in facT, Two of These individuals were subsequenle examined dermaToglyphically; one was found To TABLE 37. Observed: I32 2x2 conTingency Table To TesT The hypoThesis ThaT differences in frequency of crypTorchidism exisT beTween menTally reTarded males wiTh crypTorchidism and menTally reTarded males in general CrypTorchidism crypTorchidism randomly selecTed males 7 males wiTh abnormal ThumbprinT _8__ I5 ExpecTed: randomly selecTed males I2.26 males wiTh abnormal ThumbprinT 2.74 Chi-square = Chi-square '01,] = 6.63 2.26 + .23 + IO.IO + |.05 = N0 ToTal l23 I30 _2_I_ _22 I44 l59 lI7.74 26.26 |3.64 I33 have a radial loop on a number 4 digiT, a configuraTion rare among normals). SubsequenT biochemical and cyTogeneTic evaluaTion revealed ThaT Two of The eighT individuals wiTh crypTorchidism and abnormal fingerprinT paTTerns on digiT I also had biochemical or chromosome abnormaliTies; These errors may presumably have been causally relaTed To The crypTorchidism. Among The remaining six individuals, for whom no such abnormaliTy was apparenT, cerTain addiTional dermaTo- glyphic similariTies were found. Four of The six individuals had only one arch (ThaT one on The number I digiT), compared wiTh only four of The 20 males wiThouT crypTorchidism. AddiTionaIly, These same four individuals all had aT leasT one whorl, and always on aT lease one number 2 digiT; among The 20 males wiThouT crypTorchidism, however, only seven had one or more whorls and in only Two individuals were whorls seen on digiT 2. These findings (i.e., occurrence of arches only on digiT l and The occurrence of more complex paTTerns on The oTher digiTs) are suggesTive of a developmenTal process affecTing only The fingerprinTs on digiT I. AT leasT one oTher such syndrome is known - HolT-Oram syndrome. In This disorder, fingerprinT paTTerns on digiTs oTher Than digiT I appear To be IiTTIe differenT from Those in conTrol individuals. However, The fingerprinTs on digiT I are markedly abnormal in ThaT approximaTely 50% of The individuals wiTh This syndrome have a radial loop on aT leasT one number I digiT (Hassold, unpublished daTe). However, abnormaliTies of forelimb developmenT which are ofTen seen I34 in associaTion wiTh HoIT-Oram syndrome were noT deTecTed in any of The individuals wiTh crypTorchidism. FurThermore, a subsequenT examinaTion of These six individuals failed To show any physical similariTies suggesTive of a common eTiology for Their reTardaTion. So while The daTa sTrongly suggesT a correlaTion beTween abnormal fingerprinT paTTerns on digiT I and crypTorchidism, no one causaTive agenT for such abnormaliTies could be deTecTed. Incidence of chromosome abnormaliTies Four of The 47 individuals (8.5%) had radial loops or arches on aT leasT one number I digiT and were seen To have abnormal chromo- some consTiTuTions. All abnormaliTies involved auTosomal acrocenTric chromosomes. The frequency of chromosome abnormaliTies seen in The presenT sTudy is compared To oTher cyTogeneTic surveys of menTally reTarded individuals in Table 38. In five of The six surveys The ascerTainmenT was ToTaI; i.e., individuals were noT selecTed on The basis of mulTiple abnormaliTies or suspecTed chromosome abnormaliTy, buT were raTher inTended To represenT The insTiTuTionaI populaTions in general. The final sTudy (STaTe of Michigan) included individuals ascerTained because of suspecTed chromosome abnormaliTies; however, iT has been included because The insTiTuTions from which The individuals were selecTed and The Time period of The survey are boTh roughly The same as The presenT sTudy. For all surveys ciTed, finding wiTh respecT I35 TABLE 38. Previous cyTogeneTic surveys of menTally reTarded individuals* Number of Sex chromosome AuTosomal ToTaI % STudy Individuals AbnormaliTies Abnormaljfies Abnormal Abnormal SuTherland & 36 3 0 3 8.3 Barholomew (l97l) Newfon eT al.- Il5l l0 IO 20 l.7 (I972) FujiTa and 58 2 l 3 5.I FujiTa (I974) Speed eT al. 2770 3| 33 64 2.3 (I976) Jacobs 296 2 3 5 l.7 (ongoing) STaTe of 658 Michigan I0 6 l6 2.4 (ongoing) TOTAL 4969 58 53 Il5 2.2 PRESENT STUDY 47 O 4 4 8.5 * excluding auTosomaI Trisomies I3, I8, 2| I36 To Trisomies I3, I8, and 2| have been excluded, since These were screened from The presenT projecT aT iTs onseT. Comparison of The resulTs of previous cyTogeneTic surveys and The presenT sTudy shows a four-fold increase in chromosome abnormali- Ties in The presenT sTudy (This difference is significanT aT p=.0l; chi-square = 7.90, I d.f.). FurThermore, when only auTosomal errors are considered, This becomes an eighT-fold increase. Four explanaTions can be given To accounT for The increased frequency of chromosome abnormaliTies in The presenT sTudy: l. The populaTion of The previous sTudies differ in some way from ThaT of The presenT sTudy (i.e., wiTh respecT To The 868 indi- viduals iniTialIy sTudied in The presenT sTudy). 2. The increase is coincidenTal. 3. The 47 individuals examined cyTogeneTically are noT represenTaTive of all menTally reTarded individuals wiTh arches or radial loops on digiT I. 4. The resulTs reflecT a real increase in The frequency of chromo- some abnormaliTies among reTarded individuals wiTh an arch or radial loop on aT leasT one number | digiT. IT is difficulT To deTermine wheTher The populaTions of The previous surveys subsTanTially differ from ThaT of The presenT sTudy. All buT Two (FujiTa and FujiTa, I974; Jacobs, ongoing) sampled primarily from Caucasian populaTions; however, liTTle informaTion is available regarding The level of reTardaTion among The individuals sampled. The facT ThaT The frequency of abnormaliTies seen in The I37 STaTe of Michigan survey so closely agrees wiTh Those from The oTher surveys supporTs The idea ThaT no subsTanTive differences exisT beTween The populaTions of The previous sTudies and ThaT of The presenT one. The Michigan survey sampled from The same insTiTuTions and during The same Time period as The presenT sTudy; addiTionally, any bias in ThaT survey would be expecTed To be in The direcTion of in increased frequency of chromosome abnormaliTies, since individuals were ofTen ascerTained on The basis of suspecTed chromosomal abnor- maliTies. A 2x2 conTingency Table comparing The frequencies of chromosome abnormaliTies in The presenT sTudy wiTh ThaT of The Michigan survey reveals The difference To be significanT aT p=.05 (Table 39). While TABLE 39. 2x2 conTingency Table To TesT The hypoThesis ThaT differences exisT wiTh respecT To The frequency of chromosome abnormaliTies seen in The Michigan survey and among individuals wiTh abnormal ThumbprinTs seen in The presenT sTudy Observed: Normal Abnormal karyoType karyoType ToTal Michigan survey 658 I6 674 PresenT sTudy 43 _fl_ 41 7OI 20 72l ExpecTed: Michigan survey 655.30 l8.70 674.00 PresenT survey 45.70 I.3O 47.00 70l.OO 2O 72I.OO Chi square = 6.I7 (Chi-square,l .05=3.84) I38 The numbers involved in The presenT sTudy are small, This finding supporTs The idea ThaT chromosome abnormaliTies are increased among reTarded individuals wiTh arches or radial loops on digiT l. Of The iniTial 77 reTarded individuals found To have an arch or radial loop on digiT I, 47 were profoundly or severely reTarded and 30 were moderaTely or mildly reTarded. However, of The 47 indi- viduals who were available for cyTogeneTic evaluaTion, only seven were moderaTely or mildly reTarded. This finding argues ThaT The increase in chromosome abnormaliTies is parle due To an increased frequency of more severely affecTed individuals among The final 47 individuals; in facT, a repeaT of The analysis in Table 39, (assuming ThaT no chromosome abnormaliTies would have been seen in The 30 indi- viduals noT cyTogeneTically examined) shows ThaT The difference beTween The Two sTudies does noT reach significance (Chi-square = 2.I2; chi-square|,.05=3.84). However, even assuming ThaT no chromo- some abnormaliTies would have been seen in The 30 individuals noT available for chromosome analysis, The frequency of abnormaliTies seen in The presenT sTudy is sTill more Than Twice as greaT as ThaT seen in The previous surveys lisTed in Table 38 (and The frequency of auTosomaI errors is over four Times as greaT). While iT cannoT be conclusively sTaTed ThaT reTarded individuals wiTh an arch or radial loop on digiT l have a greaTer frequency of chromosome abnormaliTies Than does The reTarded populaTion in general, aT IeasT Two finding supporT This idea: I39 I. an increased frequency of such fingerprinT paTTerns on digiT l among individuals wiTh a varieTy of auTosomaI abnormaliTies (Preus and Fraser, I97l; Lewandowski and Yunis, I975) 2. an increased incidence of auTosomal errors among reTarded individuals wiTh abnormal fingerprinT paTTerns on digiT I seen in The presenT sTudy. TogeTher, These findings sTrongly suggesT ThaT There is an increased frequency of auTosomal chromosome abnormaliTies (buT probably noT sex chromosome abnormaliTies) among menTalIy reTarded individuals wiTh an arch or radial loop on aT leasT one number I digiT. DeTecTion of a probable chromosome syndrome Of The four individuals seen wiTh abnormal chromosome consTi— TuTions, Two (cases I and II) had similar - if noT idenTical - abnormaliTies. BoTh had a supernumerary chromosome midway in size beTween a D and G group chromosome, and in boTh cases The exTra chromosome was seen To be boTh bisaTelliTed and dicenTric. FurTher— more, a comparison of The clinical manifesTaTions of The Two indivi— duals revealed ThaT boTh had seizures, buT few oTher obvious abnor- maliTies. Because The banding paTTerns of The addiTional chromosomes of The Two individuals were originally ThoughT To be consisTenT wiTh ThaT of a deleTed chromosome I5, a comparison was made of The cyTo- geneTic and clinical findings of These individuals and previously reporTed cases of parTial Trisomy IS. The findings are summarized I40 in Table 40. ReporTs of ReThore eT al. (I973) and FujimoTo (I974) have noT been included, since in The former The parTial Trisomy l5 was combined wiTh monosomy 2| and, in The IaTTer, The Trisomy was for The disTal segmenT of l5. The l7 reporTs of parTial Trisomy I5 can be grouped inTo Two caTegories: Those involving a TranslocaTion, and Those involving The presence of a supernumerary chromosome. In The former case, idenTificaTion of The TranslocaTion producTs in a normal carrier made The diagnosis of parTial Trisomy l5 unequivocal. However, in The IaTTer group, The diagnoses are less reliable, since They were based on The deTecTion of a supernumerary chromosome wiTh a banding paTTern resembling ThaT of a deleTed chromosome l5. ParTial Trisomies of several auTosomal chromosomes are known To be associaTed wiTh CharacTerisTic clinical picTures (Escobar ef al., I974; Escobar and Yunis, I974; Lewandowski and Yunis, I975). Thus iT would be anTicipaTed ThaT The clinical manifesTaTions would be similar for individuals wiTh parTial Trisomy for The proximal porTion of chromosome I5, regardless of The origin of The Trisomic segmenT. However, a comparison of The Two Types of parTiaI Trisomy l5 lisTed in Table 40 shows ThaT This is noT The case. All five Trisomic individuals whose diagnoses were verified Through a TranslocaTion display menTal reTardaTion in associaTion wiTh a large number of physical abnormaliTies. However, among Those individuals wiTh a supernumerary chromosome only Two individuals (Those of Magenis ef al. and Mankinen eT al.) display such a varieTy of sTigmaTa; one of These (Magenis eT al.) has several abnormaliTies seen also among m_co+oQ>c .m:Em_nmL+m .m>cca0c>m mcomc_+ o_++__ +L0cm .>_>+ooo Ioc__o .mcmo .mEcOCQo .o+m_ma cococm cm_c o_co+0a>£ .o+m_ma nococm ;m_c .mzsm_nmc+m .mzs_mc+a06co +cm_m o_o_mcos +cm__m .m_co+0a>; .mo_0+ _mc+cmo_ao o>_+omcoa>; .cooco_m .m_aoL+omo mcmmc_+ m_++__ +Lo;m .mcomc_+ coamcm o_oc_am .o_mcm mc_>ccmo oommococ_ .m_m0ca>x o_omco;+ .mcmo mace. .n+oo+ oo+mcmaom .+cm_m o_o_mcos_+cm .ma__ __:+ c+_3 c+zoe omcm_ .omo: noOcn .m:c+cmo_ao .co_+mocm+oc L+30Lm .m35m_pmc+m mcmo +0 moo__oc c_c+ .coooam oc3+mEE_ .o>_+omcoa>c .m35m_nmc+m o+mEm_hmlpog+o + + + NNUIL0+Q V+ + + + mmoucm+a + I + + Nmalcm+a + I + + NNUIL0+Q l + .XOLQ Uwa _ms_ + Ix0La own + + NNUIL0+Q .NePIqMJWI coTCOQ m. m.m m. we o_E0m_LH 9 0w 2 o 1+ JD. n e w I. 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IZA GIAd p U: m. x00:c_+coov ow m4m0: 0_a_+_:E .0_m:0 m:_xcc0o 00000L0:_ + + + + L05 + xx .xv __ _00: +0 02L0> .0+0_0a 00:0:0 :m_: + + + + :05 + xx .mv . ”x0:+0 +:000Ld lllllllll amamxmuMMIwmhmum.40HLmKMQNLI.I.l.I.I.I.l.I.l.I.I.I.I.I.I.I.I.I.I.I.I.I.I.I.I .0c00 0mL0_ .0_:+0:m0:0_s .0_q0:0ax: .0:Em_p x0_oummuvxm_uxv+ -m:+m .Em_Lo_m+Lm:>: .m+m_ma can a__ ++m_o I + I + 4_alcm+a m_ Ema+xx .me .n 00_+__0E:0::0 0mm .0_:0+0ax: .00_00a00ax: .0_00__000 .E:+0>00x0 03+00a mm_m .0L00 0mc0_ .0_:+0:m0:0_s .0_ao:0ax: .0:E0_n xv_ommovxm_unv+ I0c+0 .80_:o_0+c0ax: .0+0_0a 0:0 a__ ++0_0 I + I + 0_UIL0+Q m_ L00+ xx .x0 .0 xo+m_c .0000: 0 Lm++_m+: x_x+o00o+aE0o .E::+._:a m:o_ .mmcsmm_+ _0L30a_ma ms:__no .mo_0+ _m:+cmu_am xe_anmmac x0+o_c .50_L0_0+L0qx: .x_0:a0ooLo_E .__0E0 I I I v_UIL0+a xm_uxv+ xx .00 ._0 +0 _0+00o + 000+ c+L30+ 0:0 0L_:+ ._ :0 x_x+o00:x0 .00o+ 0:_:+ 0:0 0:0000 .0 +0 x_x+o00:x0 .000x:a_a0 _0LOE0+ _0E_xoLa o_L+0EEx00 .x_x+o00o:__o .E:+0:00 o_+00.aon: .0_:0a0:o_e .0_:c0: _0:_:m:_ .000: 00x00: .0_:+0:m . xmxo_v Io:o_E .0+0_0a 00:0:0 com: .0L00 00ELO+_0E I I + .xoLa 000 m_ :00+ xx .xv _0mcm w L0+0_::0m 0+0Em_+0 ci0:+o W. W xnw % .w :o_+L0a :o_+:+_+0:oo x03+m % w w n. ma o_500_:+ 0500050::o 1.. J 9 n 8 w i. J I. e 0 a I I5 S unnuhm a .A.d D. U. m. A003: _ +couv ov mom/t. I44 cerTain of The TranslocaTion Trisomy individuals. The remaining Ten individuals, however, exhibiT only minimal phenoTypic abnor- maliTies. The mosT commonly seen abnormaliTy in This group is seizures, which occur in six of The Ten individuals, buT is noT seen in any of The five individuals wiTh parTial Trisomy l5 verified Through a TranslocaTion, or in eiTher of The Two individuals wiTh a supernumerary chromosome and mulTiple abnormaliTies. This unexpecTed difference beTween The Two caTegories of parTial Trisomy l5 is made even more sTriking when iT is considered ThaT, for Three of The five TranslocaTion Trisomy individuals (CasTel ef al. and Pfeiffer and Kessel), The Trisomic segmenT is acTuaIly smaller Than in mosT of The cases wiTh an exTra chromosome. The clinical daTa, Then, indicaTe ThaT These Two Types of parTial Trisomy I5 are aT leasT Two separaTe abnormaliTies (i.e., reporTs of parTial Trisomy I5 in associaTion wiTh a supernumerary chromosome are probably relaTed To an abnormaliTy oTher Than parTial Trisomy l5). This idea is supporTed by cyTogeneTic evidence; while The occurrence of bisaTelliTed chromosomes is rare and noT usually seen in associaTion wiTh menTal reTardaTion syndromes, no less Than six of The I2 super- numerary chromosomes suspecTed of being deleTed chromosomes l5 display saTelIiTes on boTh chromosome arms. This finding suggesTs a common, complex origin for These chromosomes and, in facT, in The Two insTances where cenTromeric banding was carried ouT (Van Dyke eT al., Pfeiffer and Kessel) The bisaTelliTed chromosomes were found To have Two cenTromeric bands. I45 Taken TogeTher, The clinical and cyTogeneTic evidence sTrongly suggesT The exisTence of a disTincT chromosome syndrome (differenT from parTial Trisomy I5) among Those individuals wiTh supernumerary chromosomes lisTed in Table 40. Several poinTs may be made in supporT of This idea: I. The high frequency of bisaTelliTed chromosomes among These indi- viduals; of I4 individuals (l2 from previous sTudies and Two from The presenT sTudy), nine were seen To have an exTra, bisaT- elliTed chromosome; in all four cases where cenTromeric banding was performed, The chromosomes were seen To be dicenTric (indi- caTing a common mechanism of origin) 2. The relaTive absence of sTigmaTa among The individuals; only Two of The l2 individuals wiTh supernumerary chromosomes displayed mulTiple physical abnormaliTies; The remaining individuals, including all individuals wiTh bisaTelliTed chromosomes, appear To have fewer somaTic effecTs 3. The high frequency of seizures; eighT of The I4 individuals (and six of The eighT wiTh bisaTelliTed chromosome) are known To have had seizures, compared wiTh none of The five TranslocaTion Trisomy individuals. FurTher supporT for The idea of a disTincT chromosome syndrome comes from The sTudy of NewTon ef al. (I972). In a survey of menTaIly reTarded individuals, Two individuals were seen wiTh an exTra, bisaT- elliTed chromosome midway in size beTween a D and G group chromosome. Banding of The chromosomes was noT done. BoTh individuals had I46 seizures, buT few oTher obvious abnormaliTies. Several auThors have speculaTed on The origin and naTure of The bisaTelliTed chromosomes in These individuals. If The assumpTion is made ThaT mosT, if noT all, of These chromosomes are dicenTric in naTure, Then The following mechanisms could resulT in such chromo- somes: crossing over following a paracenTric inversion, asymmeTric reciprocal TranslocaTion, and sisTer chromaTid union following an isochromaTid break (Figure I6). The firsT and lasT mechanisms would resulT in parTial TeTrasomy for The chromosome involved; The second mechanism could eiTher resulT in parTiaI TeTrasomy (TranslocaTion beTween homologues) or double parTial Trisomy (TranslocaTion beTween non-homologues). Van Dyke eT al. (I976) have suggesTed ThaT The bisaTelliTed chromosome seen in Their case arose from a sisTer chromaTid union following a break in The long arm of chromosome l5, making The affecTed individual effecTively TeTrasomic for The proximal porTion of The long arm and all of The shorT arm of IS. Their case was complicaTed by The presence of anoTher, smaller, bisaTelliTed chromo- some, apparenle derived Through a bridge-breakage-fusion cycle from The larger bisaTelliTed chromosome. Through an analysis of heTero- morphisms, Pfeiffer and Kessel (I976) hypoThesized ThaT The bisaTelliTed chromosome in Their case was maTernaI in origin, and resulTed from an asymmeTricaI TranslocaTion involving chromosomes 22 and IS. In The presenT sTudy, an analysis of heTeromorphisms in The Two indivi- duals revealed differences (in boTh individuals) beTween The markers .> C A. I47 40 \I 9 .40 ‘l/ ._ I 0M0 oDCD‘ 4 1 '1 FIGURE l6. Three possible mechanisms leading To The producTion of a bisaTelliTed, dicenTric chromosome: asymmeTrical reciprocal TranslocaTion, B. IsochromaTid break followed by proximal sisTer union, C. crossing over following a paracenTric inversion I48 of The Two chromosome ends (Figure II). This would eliminaTe sisTer chromaTid union following an isochromaTid break as a possible mecha- nism for The origin of These chromosomes. Analysis of C-band heTero- morphisms in boTh individuals revealed ThaT cenTromeric regions were consisTenTIy darker Than would be expecTed if The chromosomes were derived from eiTher chromosome I3 0r 2|. FurTher aTTemst To specify The idenTiTy and origin of The bisaTelliTed chromosomes seen in The presenT sTudy were unsuccessful. We are presenle only able To conclude ThaT The bisaTelliTed chromosomes arose from eiTher an asymmeTric reciprocal TranslocaTion involving chromosomes I4, I5, or 22, or as resulT of crossing over following a paracenTric inversion in any of These Three chromosomes. I 49 SUMMARY AImosT all previous dermaToglyphic sTudies of menTal reTardaTion have Involved characTerizaTions of abnormaliTies seen in associaTion wiTh well-defined syndromes. In The presenT sTudy we have aTTempTed To do The reverse; ThaT is, To deTermine The usefulness of dermaTo- glyphic analysis as a screening Technique for The deTecTion of new menTal reTardaTion syndromes. FingerprinTs were collecTed from 868 non-specific menTally re- Tarded individuals (537 males, 33l females) and I463 conTrol indivi- duals (733 males, 730 females). The fingerprinTs of The reTarded and conTrol groups were compared iniTiaIIy wiTh respecT To Two quanTiTaTive TraiTs - ToTaI finger ridge counT and paTTern inTensiTy. A significanT decrease in ToTal finger ridge counT was seen among The reTarded males; however, no oTher significanT differences were seen beTween The conTrol and reTarded groups wiTh respecT To These TraiTs. SubsequenT analysis of frequency disTribuTion of The four digiTal paTTerns showed ThaT, among The reTarded males, There was a significanT increase in arches and a decrease in whorls; among The females, There was a significanT increase in boTh whorls and arches, and a decrease in ulnar loops. FurTher analysis of fingerprinT paTTerns involved an analysis of Ten-finger paTTerns, in an aTTempT To deTermine if any unusual l50 paTTern combinaTions exisTed in excess among The reTarded populaTion. EighTeen such Types of Ten—finger paTTerns were isolaTed, mosT of which involved The presence of eiTher radial loops or arches (eiTher in high frequency or on digiTs oTher Than expecTed). ForTy-seven individuals wiTh eiTher of Two of These Types of Ten-finger paTTerns (i.e., arches or radial loops on digiT I) were subsequenle examined for possible similariTies indicaTive of a menTaI reTardaTion syndrome. Among These individuals, higher Than expecTed frequencies of crypTorchidism (8/28 males) and auTosomaI chromosome abnormaliTies (4/47) were noTed. Two of The individuals wiTh chromosome abnormaliTies were found To have a similar cyTogeneTic abnormaliTy, involving The presence of a supernumary, bisaTelliTed, dicenTric chromosome. Clinical and cyTogeneTic similariTies beTween These Two individuals (and oThers reporTed in The liTeraTure as having parTial Trisomy l5) are consisTenT wiTh ThaT of a chromosomal syndrome. APPENDICES |5| ‘Wum 2 Vummnou out DATA _‘Tfiu «(Io-<1 l mug-RI FOR STATE (FOE-BMW —I (cm) 7730’.) m In urinfifiur am 30% «I m nucumc «I AM- I [J Chen a D (nu-mam |- J I m " c‘"‘"“"""“ 7 "0"!“ ‘ UV" 3. Abnmmol 1 :‘Yu" I Antonov T IRON" " 00'" 9TH 5'" "I “’I (cm) I l__L_I Iowa. 2.'L]~o How 2 . .INo Fem-mu. 2 ' :Cloud WI-flh l | _l 2. Dug» _ J .' ‘uggflflP §hopc 3 l__qu “37.4305 may: I __L_1 ‘ 6. WM I BY” 6. Law I UV” 7 0mm" boon Natl 2 UNI: Pouonof 2. UNo 3. []UK Howl-n. J DUK __ _ __ __ _ . _ m C. Fatal 1. UN." 9. Flu I gjvu I0 MIuhaoon I {71,an H Law I |‘Voo 12 Omar“ . a Want. 2 Ohio Nun! 2 L] No Eu- 2 T ‘No SM 2 | No Abnomul’ J Ely: Bung. 180‘ :I I Lox Em ” 3”;qu m '3. lmovpvp-Iluv H Slonlod Eye. 15 SUIOIWIu 1. I IV" I). Nvulogrhul 1 I I You Dtm I [—1—] I, DMonooIOIa 3. L—JNon-nol 2 F‘No 2 I |No lcml lily} _ _ .LD AMI Mongolg>ng__i_|i;u_( _7 J Rim} + __ __J l lux 10. Human. I. iijvu 19 Ep-convml I L 1'" 20. Maculo I. Liv“ 21 ”tot-0 I. :_:|YGI 22 Conan I |Vu Pig-wanton 2 F] No Fotd 2. [3 No Chovvv Rod 2 Chic 2 :jNo 2 | l '50 .‘l DUK _ J |j‘UK_ ,. Soot >3. _.. |L_J_K _ 3 {_4.le _L 1L | UK 23 02M" 2‘. Fundolcopy 1. U00!" Finding. ——-- —-——I - ~—-- W I 2 FJNOI Don. 3 [jun 7 III! 25 Cl." 1 TJVOI 26 Ch" I 23'” 21. N-qh 1 FIVu 28. MuochuI-on I j- Va 29. D-uowua I :3" Ya LID 2 LINo Pain. 2 '. 3N0 Archad 2. [—3940 2| INo Enomnl 2 |J Re :I_ (JUL. -.-, # J. [Jun mm _ __J_ Iii- 3 L lux _ 3._'_L_J _ux_ JO. Entovpo I Liv" 3| Mucoo I ||Yu 32 Cum“ You" 2 [1N0 rum. 2 IJNo __ JUL»: ,_-_3.UU,": +74. 7 7 7 _y _ __ y ___y m 33 Cunamlovonco 34 'ocIm I |3Vu 35 POCIu. I |7vu 36 Who." 1 E:V.g IT]? GIN-v" 1 L_J__J Conn-mm [1N0 E-covuum 2 3N0 2 |No 2 [)UK 3 DUI 1|.luv. 3 I luv: —571‘qu3707 ZRI'J— I DYuV ' 39, Mwmu-l — I UV" Gucci if H iTiW "777 7 407 700901" 2 UNo 2. I.) m. up. _,-__._ 1GP." .. J I Tux '_ i7 7 __ _ _ _— H ‘0. Enlovgod I av" 41. Enlarged 1 Flu. d2. Nam-o I {-3an 43 Rock“ [:3 V" 44. OHM!" Low 2. [3N0 Saloon 2 “No Umbilccol 2 |No Dunn-II 2 CNO JDUK JUIJ-n J L lux 31 I»: w >45. Fund 1 UV" ‘6. imam 1 Lj V“ 47 Vagina I I—jvn" lisTFITIFown; 7) [jive-7 49 00:05;— m Loom 2 DNO CIIIonI 2.DNo Abnovmal’ 2 [JNo Hun-o 2 [jNo . 3. [19x 3 [ Jun 3 [Flux J Ljux _ m 50 HRH—o 1 UV“ 5! You" R! I I__1_J 52 Undmonoun (In: 53 Inga-"ll 1 I IV» 54 6mm" .1 pm. 2 [3940 Sac LI. 2 |_.I_J 1'qu 2 LJU Mom». 2 [ f~o J. [—19"__._--‘_““’ J {Jun 3 Dun A. J [3le m 55. cnmoaocmy I UN“ 56 Polvdoclvlv I [_]Hm 57 Sync-ctyly I l me 58 Scone... 1 '7; u. 59, Sam I 57 Va III! 2. C15... 2 LI um 2. Us... 2 [free amo- 9 : j ~o JUUK Jljux 1::UK :Iglux allow ‘0. AW" 1 UYOI-l 61 Ova-l;;I-r:g I If] Y" 62 Abnotmal I [:va1 63 Continuum ‘ Lj V0! 64 Sum-00 ‘ if}: hoe-n. 2 []No Flag-n. IEJNO Ema-II. 2 [AJNo 2. U No L-no 2 [-7, No 10.. 1D on $777,100! 1L] 9:, Too:______fi3 ilux . 3 I; UK 3 F." W on. Jomll. 1 D You 66 00w" 67 Soon ILongm 00 mm» «I am a"... 2.8 m: I L_I_.I sumo-bio J [3 UK 2 2 UR 'I-o tonn- uo. Oov cod“ ' 'Ooouvbo tend-noon on uncut. moot APPENDIX A Physical examinaTion form used in evaluaTing The majoriTy of individuals wiTh abnormal ThumbprinTs (obTained from Oakdale DevelopmenTal CenTer, Lapeer, Michigan APPENDIX B 278 moderafe - mild = 259 730 profound - severe ulnar loop loop radial Ten finger pafferns in confrol and menfally refarded males grouped = arch according +0 The fhree number codes described in Tables I3 and I4. For each fen finger paffern: n - conTrol o__z n_ l.nVI.I. nun. nunvl.nvnvl.l.l.|.nu I o+mcoooz mcm>mm n. 0000 00 0000....00000 I oc:0+0cd _o..+coo n. 2l00 l0 2l0200000l 1.1.7.7. l.l. I.7.I.I.A.I.I.I.7.I. I.I.7.7. 7.7. KJI.I.I.I.7.I.I.0.II I.I.I.I. 7.7. K.A.4.I.I.A.K.A.A.A. as I.7.I.7. 4. .l.z .3 lllllllll I; _ 7.7.7.7. . 7.7. _ I.I.A.I.I.7.I.7.7.A. . o_.2 n_ zany|.nunos,|.|.nununu|.nununu l.nunu I m+mcoooz .l mcm>®m n_ 900|l22l2||000| Oll I oc30+oLd .I 7.I.I.I.nvnvnvszJlununUOLIInu nonunu _oL+coo n_ .5 .I I.I.I.7.A.I.I.I.7.I.7.l.l.l.I. .4 I.I.7.7.7.I.I.7.7.9.9.24I.I.K, Mu l|22l 2| 3! 32 3| | I ll2| l52 |2ll| |2lll |2|2| l2||2 l2l2| l2l2| l2|22 l2|2| |2l22 l222l |2222 l23ll l24|2 l242| |3||| |3||2 l3l3| |3|2l l3ll| |3l2| |3l|l l3ll| l33ll l33|2 |34|2 Moderafe - Profound - Mild F3 ConTrol Severe 3 --C>-C>UI- c>c>-c>—-c>c> cacacac>c>c>m> 00 0—0 —-l>l\)-OOO\ ——OOOOO\ C>—-C>—~—-—.b OO— —00 l2|2| |2l2| |2|22 l2l22 l2l22 l-5-3 |22l| l3lll l3|ll l34l2 l332l |4||| |4|4l |4||| |4l2l l4|22 |44ll |44ll |4l|l |4l|| l4|22 m)m>m>—-—-—-—- kJ----N)—- ll2|2 |l22| ||2|l ||22l ll222 ModeraTe - Profound - Mild Confrol Severe D 3 0000 GOOD OOOOUJ OO-—N _.._oo_ COO—— —OI\IOO O—OOO c>n>mJ—-c>c>ox -—-c>—-c>—~n c>c>n>-—-c>04 —'—ON— COO-O —O—|\JO l222l |2222 l2222 l-5-4 l22l| l22l| |2222 |2222 l22|| |222l l222l l2222 l2222 —N— |l2|| ll22l l|2|| ||22l ll3ll l2l|| l2l2l |2|22 l2||l |2l2l |2l|l |2l2| |2ll2 l2l22 l2lll l222l l22ll l222| l2222 l2|l| IZIII |2|2l l2l2l |2l22 l3 Confrol 0—0 0000 O—O—OUJ—OON —U~ll\)f\)— Profound - Severe I: —O_ O___ —O—O OONO—ONO—— OO—OO Moderafe - Mild 3 OOO —OOO O—OO —OOOOOO—Oi\) —OOOO l54 l2lll l2lll |2l2l l2l2l l2|2l l22ll l222l l222| l222l |2222 l24|| |2||| |3||| |3l2l l3ll| |3l22 l3l2| l322l |3||l l322| |3222 l3322 l332l l422| l422l ConTrol NNNN— Profound - Severe :3 OO N—UIUIO —OOOO ModeraTe - Mild |: CO ONOOO 0000-- CO l-9-l l3lll l3l|l |3|2l |3l2| l3|22 |3l3l l3||l |33l| |33ll l34l| |34|| |332| |342| -|0-| |3lll |3|2| l3l2l |3l22 |3|22 l-IO-Z |3lll l-l0-3 |32l| l322l |l2ll l2l|l |2||| l2l2l |2l|| l2l22 |222l l2lll |2||l Confrol _ '3 O-CDU~J\I c>—-—--c>—-—- OO——l\) Profound - Severe :3 —--—-—-—- —-—-c>c>c>c>- c>c>c> C>C>C)-C)- Moderafe - Mild n -C>-—-C)\J OOOO—OO COO—N I55 I-l0-5 l-ll-3 I-ll-4 l-IZ-I l-l0-3 |322l |323l l-lO-4 |322l l3222 |34|l l3|ll l3||l |3|2| l3l2l l3l22 |32l| l322| l32|l l32|| l322l l-ll-5 l3lll |33|l l3|l| |332l l34ll l34l| |3||l l2l2l |2||l l222| l222| l24|| l3|ll l3l2l |3l|| l3|2| |3l2l |3||l l3lll l32l| |322l l322l |33l| l3ll| 134|l l33ll |3||l |34l| |4|l| Confrol —KNUJU~J|\) OO— NWOOUJ— Profound - Severe :3 OO O—NON OO O-OOOO Moderafe - Mild 3 OO OONOO — —OO OO——bO l-lZ-l |3l2| I-l2-5 |3l|| |34|l l-l3-l l4lll |4l2l |4l2l |4l3| l-I3-5 l4lll l44ll |4l2l |4l3| |4422 l444l ‘1-14—1 l4lll l4lll l4l22 1-15:1 l4lll l4lll l4l2| l4|2| l-l5-5 l4|2| l4lll |4ll2 l4l2l |4|44 l4lll 14411 14441 --I\)-—- ll3l| l|4ll |l4ll ll44l ll222 ll4ll |2ll| l2l2l l2|22 l3lll |3l2l l3l|l 13l2l |3l2l l334l l3422 l34ll l344l Confrol —--mb —OO——O N—-U'l O_—_— Profound - Severe :5 O CDC—— OO—OO- —OOOO Moderafe - Mild I: OOOU‘I O—O—OO OOON — OOOOO |56 1-15-5 14311 13111 14411 13311 14411 13411 14411 13441 l-I6-l 14111 14111 14111 14121 14111 14141 14121 14111 14124 14111 14121 14121 14121 14124 14131 14121 l-I6—5 14111 14411 14111 I4444 14112 14411 14121 14411 14144 14414 14321 14111 14411 14111 14411 14411 14414 14114 14414 14411 14414 14444 14441 14412 14444 14414 14441 14441 14444 14444 2-1-1 11111 21111 11121 21121 2-1-2 11121 21222 Confrol -—-—-c> —-—-----C)kn O——OOOO——O——OOU‘I Profound - Severe |3 O—OO OOOO—OON *OOCD—O——O“OO—O— Moderafe - Mild COO- OOO—O—O—OOOOONN OOOOOO—Jh- OO 2-1-5 11111 21311 11111 21321 11123 21421 11131 21421 2-2-1 11111 22111 11121 22111 2-3-1 11111 23111 11111 23121 11122 23122 2-3-5 11111 23411 11411 23121 2—4-1 11111 24142 2-4-5 11411 24111 2-5-1- 12111 21111 12111 21121 12121 21122 12122 21122 2-5-2 12121 21222 2-5-4 12221 21221 —000 —0b Profound - Severe "J O——_ COO 0000 Moderafe - Mild 0000 0000 I57 l2lll l2l2| |2l2| l2l22 2-6-2 l2||| |2l2l |2|22 l3||| |3l2l |3l2l 2-9-5 l3ll| 2-I0-3 22lll 22l2| 22l22 22|2| 222l| 22221 2222i 222|l 2222i 2222| 22432 23|l| 2322| 2lll| 2l|2l 2||22 2l3|| l322l 22l2l Confrol c>-—-n- '3 Profound - Severe 0000 000 Moderafe - Mild 3 2-10-4 13221 12222 2-11-1 13111 23111 13111 23121 2;1__1-_2 13111 23221 51:: 14222 22122 2-15-1 14111 23111 2-16-5 14114 24414 14411 24411 3—1-1 21111 21121 21121 21122 21122 21123 -N-N-— 11222 21111 11411 O 1: Confrol [\1 KN O——1\)«bl\) Profound - Severe OO —OOO'-U~1 Moderafe - Mild I: O OOONO-D- 158 12111 12122 12111 12121 12122 13111 13221 13221 13311 13411 13111 14111 MINES—1:1— n)—-—-m>—--—- C)_, 13 Confrol u)—--—-c> N—OO——J>~ Profound - Severe 3 —0 00000 —O—OOOO Moderafe - Mild 3 CO 0000— COO—~0— ‘I‘i 11222 11222 11222 11311 12111 12111 12112 12121 12111 12121 12121 12122 12211 12211 12121 12111 12121 12122 12221 12221 Confrol |:3 -—NUJ-D—O—O\ —OUJO Profound - Severe [:1 -O OO OOOOO—OO O——O Moderafe - Mild 1:: OO OONOOOOO OOO— 159 3—6-4 22222 22221 22222 22222 23321 23411 3-10-1 23111 12211 12222 12221 12222 13111 13221 13122 14121 N— 11221 11111 11411 12111 Confrol [:1 O\O\—O Profound - Severe :3 NNO— Moderafe - Mild '3 GOOD 3-10—1 23121 12111 3-10-3 23221 12111 23221 12121 23222 12121 23222 12111 3-10-4 23221 12221 3-10-5 23322 12111 23311 12411 3-11-1 23111 13111 23121 13121 23121 13111 3-11—3 23221 13121 3-11—5 23111 13311 3-12-1 23121 14111 23122 14122 3—12-3 23222 14121 3-12—5 23111 14421 Confrol II) N O—-O Profound - Severe [:3 O “—000 Moderafe — Mild D O—ON —01\) 160 3-12-5 23421 14411 3-13-1 24111 11111 3-13-5 24131 11411 24311 11411 24422 11121 24411 11411 3-15-1 24111 24121 13111 24121 13122 24122 13111 13111 3-15-5 24111 13311 24122 13322 3-16-1 24111 24111 14121 24121 14111 24122 14121 14111 3-16-5 24411 14111 24411 14411 24414 14411 21111 21121 21141 21111 21121 ‘Confrol [:3 O —O—O NWO— 1x.b-—1w-— Profound - O O O 0 Severe O—OO OOO OO—O OOOOUJ Moderafe - Mild :3 COO 0000 CO 000— ——00 O O-OO- 21121 21122 21122 21111 21121 21311 21411 21421 21411 22111 22121 22122 22222 22222 22221 23111 23121 23111 23121 23122 Confrol l: OO—N —-—-—-c> ONO Profound - Severe :3 ——OO 0000 —00 O—OON Moderafe - Mild 0000 CO OOO— OO-—O 161 4-3—2 21122 23222 4-3-5 21111 23311 4-4-1 21121 24121 24411 21111 21112 21111 21121 21111 21121 21111 21112 21121 21122 21222 21111 21121 22221 21211 22221 21221 22221 21222 22222 21212 22222 21222 Confrol —---C>Ulk)—-C)-ho '3 .u<3-—--— Profound - Severe 1: O —-—-c>—-—-m)c>—-cp—- OOOOO Moderafe - Mild I: NNOOO—OOO— 00 0—000 22111 22111 22111 22112 22121 22121 22121 22121 22122 22122 22122 22122 4-6-2 22111 22121 22121 22121 22122 22122 22122 22111 22112 22121 22111 22111 22112 22121 22122 22111 22112 22121 22122 22211 22211 22221 22222 22212 22221 22222 22111 22111 22121 22122 22111 22121 22122 22212 22211 22211 22221 22222 22221 22222 22224 Confrol u¢u1—-—-—-u¢—- u1o1—-—-m)—-—- o>u1-—-m3u1—-ua—-c>—-n) 1D OONWNOO—‘O Profound - Severe :3 ——OO——O-1>OOO— OO——OO— —OOO-OO OU‘INNN—OO Moderafe - Mild 3 —OOOOOI\> —OOOI\)ON OOOO—OONO—OO —-\J£>C)—'C>C)- 162 23111 23112 23121 23121 23122 4-9-3 23211 22311 22111 22412 22422 23111 23121 23111 23122 23121 23122 23222 23221 23311 21111 21111 21111 21121 21122 21111 23222 21121 4-9-4 23222 21222 13 Confrol k)—-C>- ONUJ—UJ Profound - Severe [:3 OOO— OOOOOO —O—OO Moderafe — Mild [3 OO—O OOOO—O O—OO— OO 4-9-5 23121 21411 23311 21111 23411 21111 4-10-1 23111 22111 23121 22111 23121 22121 23122 22111 23123 22121 4-10-2 23121 22211 23122 22221 4-10-3 23211 22111 23221 22111 23222 22121 23222 22122 4-10-4 23221 22211 23221 22221 4-10-5 23121 22411 23321 22211 4-11-1 23111 23111 23121 23111 4-11-2 23121 23221 23122 23222 Confrol 1:3 O——1\)1\) —ON— Profound - Severe 3 OOO —OO—O O——O ModeraTe - Mild 23 CO 00000 OO— 0000 163 4-11-4 23211 23211 4-11-5 23111 23311 23321 23211 4-12-1 23111 24111 4-12-5 23111 24411 4-13-1 24111 21111 4-13-3 24211 21111 4-13-5 24111 21311 24422 21421 4-16-1 24111 24111 4-16-5 24421 24111 24411 24411 Confrol |: CO Profound - Severe |:J O OO Moderafe - Mild 3 OTHER - GROUP 5 (3) 13221 .132. 11111 11111 11111 12121 12221 12222 13311 14111 14411 14441 11111 11111 11111 14121 14111 11122 11411 12121 12121 13111 13114 14121 14141 14121 (7) 21111 24431 (8) 21111 24121 22121 22221 32221 41111 4122 41411 41111 42111 43222 43111 44111 44411 44441 44411 44114 43411 44122 44221 43121 44111 42111 43122 41111 41111 43111 43411 41111 34411 34411 41111 44141 43221 43221 Confrol —————————OOOOOOOOOOOOOOO —-—-c>c> Profounf - Severe OO OOHO OOOOOOOOOOO-O———————————~ Moderafe - Mild OOOOOOOOO——O—OOO—OOOOOOO COO— 164 34111 43111 41421 43411 44121 44421 14411 22222 34411 13111 14411 12221 14411 11121 14111 21111 41111 41111 41121 44114 44411 44444 41111 43444 41441 44144 44111 44414 44441 44444 44142 44444 Confrol COCO-'0 OOOOOOOOOOWNN——-— Profound - Severe —-u>-—-c>c> OOO———————NOOOOO Moderafe - Mild OOOOO— *——OOOOOOO—OOOOO 165 U__Z 1 m+mLmuoz ouo>om 1 6:30+0Ld ,_oL+coo (16) I.I.1.nv nunvnvl. nonununu 4llllll 4.727.4. 4ll| 4.4.4.4. 4.4.4.4. 1.4.7.4. 4.1.9211 4.I.l.4. 4.I.241. 4.4.4.4. APPENDIX C Ten finger pafferns in confrol and menfally refarded females grouped according +0 The fhree number codes described in Tables 13 and 14. For each fen finger paffern: ulnar loop 730 profound - severe n - confrol = 172 159 moderafe - mild = U__z 1 m+mcmcoz mcm>mm 1 UCDO+oLd _oL+coo U__z 1 m+mcmooz oco>mm 1 nesO+oLd _0c+coo n. n_ n. n_ n. O 00 0 000000 0 00 0 001010 2 31 1 340102 1 11 1 112114 2 11 2 112214 2 11 2 344444 1 3 12 4. 2 5. 111111 2 . 22 . 2 _ 111244 80001000001011000 30000050000000100 $2160291211100121 11.412112121212134 11122311114222112 17.112111221122131 2 111111 22222222333 . 2 2 11211 11221 7 12111 166 167 n__2 1 o+mcovoz mco>om 1 cho+oLd .oL+coo U__z 1 m+mcouoz oco>mm 1 oc:0+oLd _oL+coo n_ n. n. n_ n_ 11nu 1.nun61.nunu n61. 1.nununvnvnu nv7. s51.72831.1. 1.1. 1.7.331.1.72 14 111111 3333 4.4.4.4.4.4. ll 1 111121 1.1. _ 1.1.1.727272 4.4. 4. 111111 001200000 0000001110 212124001 1.927.1.1.1.4.1.1. 7272o2111172920272 0 12221 0 14111 11122 1—4-5 0 12121 11221 2 14311 14411 12221 11211 22200100 01000011 70312000 1.1.1.721.721.1. 72 202120100 Runvnvnonvl.1.anv 0,1.1.nunvl.s,1.1. 7. 112241221 13221 11121 5 12221 1—5-4 4 3 1 13311 13411 13421 11221 12221 12111 12121 12121 12122 12122 1-6-3 12211 12221 12222 11221 12111 12111 12121 12111 12112 12121 12121 12122 12221 12221 12222 12221 12222 12121 12111 12122 12211 12211 12211 12221 12221 12222 12311 ConTrol [:1 ONUJ—U'l—NU'I ... N__.UJ__ -—-:>c>c>- Profound — Severe I: 0 OOO COO—O —OOOOOO- —OUJOOO Moderafe - Mild O —00 00000 ONOOOOO-b OOO——O 168 12111 12121 12121 13111 13111 13111 13121 13211 '5 L +— C O L) E_ 12311 1 12321 2 13111 3 13111 1 13211 2 13211 2 13221 1 13111 0 13221 3 13421 0 14111 1 11111 12 11112 1 11121 1 11111 4 11221 O Profound - Severe CO GOO GOO— ModeraTe - Mild OOOUJ 1-9-3 13221 11111 1-9-5 13111 11411 13314 11441 l-IO-l 13111 12111 13111 12121 13121 12121 1-10-5 13111 12321 13111 12411 1-11-1 13111 13111 l-ll-2 13121 13221 1-11-3 13211 13111 1-11-5 13111 13311 13111 13331 13111 13411 13121 13411 13121 13421 13122 13322 13411 13111 1-12-1 13111 14111 13111 14121 ConTrol ON 27 NO—NNOW Profound - Severe O—OOOOO OO Moderafe - Mild n -- O OO— 00000—0 00 169 1-12-5 13111 14411 13411 14411 13441 14441 1-13-1 14111 11111 14112 11111 14121 11111 14124 11114 1-13-5 14111 11411 14111 11441 14121 11421 14141 11431 14441 11441 1—14—1 14111 12121 14121 12121 1—15-1 14111 13111 14111 13114 14111 13121 14112 13122 14121 13111 1-15-5 14111 13311 14111 13411 14311 13111 14411 13111 14422 13122 14444 13444 1-16-1 14111 14111 Confrol |D .- ——1\)1\)\N 0—00 0100 —O1\)OU~1 OO—NU'I— Profound - Severe 3 COO 0000 0—000 —OOOOO OOOON ModeraTe - 111d |'_'J —0— —O—1\) OOOOO COO—O O—OOOO 1-16-1 14111 14111 14121 14121 14122 14131 14144 14121 14121 14114 14121 14121 14114 14144 1-16-5 2—3-1 14311 14411 14441 14414 14444 14441 14111 14411 14441 14411 14441 14444 21111 21121 21111 21121 21122 21131 21311 11111 23111 ConTrol I: —O\O—WN—O—NNN —1\J————1\J OO-O—N OO Profound - Severe [:3 0000000 OO—OOOO—OOOO O—OOO— ModeraTe - Mild :3 N—OOOOOOOOOO OOOOOOO —O——OLN 70 3:}‘ 11111 23121 23222 11111 24111 11121 24121 2-5-1 12111 21111 2-5-2 12122 21222 2-5-3 12221 21111 2—5-5 12111 21311 2-6-1 12111 22111 12121 22111 12121 22121 12121 22122 2-6-2 12111 22221 12121 22222 ConTrol [:3 —-----U1 Profound - Severe OO O—O— ModeraTe — Mild OO DOO- OO 2-6-4 12221 22211 12221 22222 12222 22222 2'7'L 12111 23111 12111 23112 12121 23121 2-9-1 13111 21111 13111 21112 13121 21122 2-10-4 13211 22221 2-10—5 13321 22111 2-11-1 13111 2311 11 1 13121 23 1 2-11-5 13111 23311 2-13-1 14111 21141 2-13-5 14421 21422 2-16—5 14111 24411 ConTrol I: Profound - Severe D —--c> OO ModeraTe - Mild [3 —OO 171 2-16-5 14111 24444 14441 24411 12111 12121 21122 12121 12221 21222 12221 21111 21111 21121 13111 13121 13122 3-3-4 W- 21221 13211 13 Confrol O— O——O Profound - Severe |: —O —O—1\J ModeraTe - I3 Mild OO 22111 22111 22121 22121 22111 13424 14111 1v-—.n-— 11111 11111 11122 11211 11221 11411 12111 12111 12121 12122 12111 12111 12121 12122 12122 12221 ConTrol —1\)O— —- 1D OOOOOOOOU‘I Profound - Severe OOO OO-O OO O——OO—O—O Moderafe - Mild D O O—ON ”-OO —-c>c>—-—-c>—-c>-— 172 12221 12222 12111 12121 12122 12211 12221 12222 12221 12222 12411 13111 13122 13221 13211 13111 13321 Confrol [:3 —- —-m> c>—--m>—- Profound - Severe 3 DO 000 O—OOO NO Moderafe - Mild 3 NO ——OOO 3-9-3 23221 11121 2:22: 23111 12111 9.19:2 23122 12221 3-10- 23222 12111 21:1. 23111 13111 23121 13111 23121 13121 23121 13122 211:: 23111 13311 23121 13421 3-13-1 24111 11111 24121 11111 3-15-1 24121 13111 3—15—5 24411 13411 3-16-1 24111 14111 24111 14114 Confrol |:) Profound - Severe |3 0 (DO-— Moderafe - Mild [3 O O—OO 173 3-16—5 24311 24411 21111 21121 21122 21122 21122 21221 4—2-4 21221 14121 14411 21111 21121 21111 21111 21121 21122 21121 21122 21221 21311 21111 22111 22111 22121 22122 22142 22211 22221 22121 22222 Confrol 3 —O -—-—-—-b Profound - Severe 23 COO—ON OO—OOOO OO (ID—WOOD O——.— 0000 Moderafe - Mild D —-—-c>c>c>c> -c>c>c>c>c>c> m1—- 1 kO—O—O 0000 0000 4-7-2 22111 23211 4-7-4 22222 23222 4-7—5 22211 23411 4-9-1 23111 21111 23121 21111 23122 21141 4-10-1 23111 22121 23121 22111 23121 22121 23122 22122 4-10-3 23222 22121 4-10-4 23222 22221 4-11-1 23111 23111 23111 23121 23121 23111 4-11-2 23121 23211 4~11-4 23211 23211 Confrol |:1 050 ———O_ Profound — Severe OO—O CON Moderafe - Mild OOOO .— I75 4-11-4 23221 23221 4-11-5 23111 23411 23411 23311 4—12-1 23111 24121 23121 24121 4-12-5 23111 24411 4-13-1 24111 11111 4-13-5 24321 21111 4-15-1 24121 23111 4-15-5 24111 23311 24111 23411 4-16-1 24111 24141 4-16—5 24411 24411 24411 24441 24421 24442 Confrol Profound - Severe OO Moderafe — Mild OTHER (3) 13111 14114 I.) ——b——-——-— -b-—-—-b-—-b-—-— ————1’\)——— ————N—_— 11131 12122 12111 13211 13111 13121 13111 14121 14431 14111 14411 14111 14111 14111 14411 14421 14431 14444 24121 24441 (8) 21111 24124 24444 Confrol - GROUP 5_ 32111 34414 41111 41411 41441 41122 44414 41111 44311 44111 43311 41111 41111 42211 42111 43111 44411 41122 41411 43311 43411 44111 44114 44411 44111 44411 44411 44444 34121 34441 41111 44121 44444 ——O——O————O—O—OOO———-OOOOO OO Profound - Severe CO 000 OO—OO——OOO—O—O-OOOOOOOO——— Moderafe - Mild OOOOOOOOOOOOOOO——OOOO—NOOO I76 (10) 34121 34411 41111 41411 42411 43111 43214 44111 44111 44411 44111 44414 44411 44411 44111 44441 44444 44441 24421 24444 14444 13121 11414 11111 11111 13444 14441 14411 14441 14444 41111 44111 43311 41111 43214 44111 44411 44411 44141 44144 44114 44422 44431 44442 44444 44444 Confrol c>c>—-—-c>—-c>c>c>—-¢>c>—--—-—- Profound - Severe OOO—O—OOOO ——OO—OOO—OO—OOOO Moderafe — Mild —O—OOOO—OO O—OOOO——OOOOOOOO LIST OF REFERENCES LIST OF REFERENCES Abraham, J.M. and Russell, Alex. 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