dermatoglyphics of the xyy syndrome

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Dermatoglyphics of the XYY Syndrome JAMSHED MAVALWALA, CHARLES E. PARKER AND JOHN MELNYK Department of Anthropology, University of California, Santa Barbara, Director, Child Evaluation Clinic, Children’s Hospital of Los Angebs, and Director of Cytogenetics Section, Department of Metabolism, Childrens Hospital of Lo8 Angeles ABSTRACT The presence of an extra Y chromosome in Man results in a condition termed the XYY Syndrome. Such individuals are tall, exhibit aggressive behavior, and may be mentally retarded. XYY patients are usually discovered after they have com- mitted a crime. Even though relatively few XYY patients have been recorded so far in the literature the incidence of this condition in US males has been estimated at 1 in 300. Thus the majority of XYY’s lead normal lives, directing their excess aggression into legal channels. For those who do not do so, the earlier corrective educational therapy is constituted the better the result. Since dermatoglyphics are affected by chromosomal aberrations there is a need to examine the dermatoglyphics of XYY patients in order to establish specific dermatoglyphic features that can be used for diagnosis at birth. Dermatoglyphics, because they are formed by the fourth month of fetal life and do not change thereafter except for size, have long been used as a criteria to identlfy different groups of Man. Because of improved cytogenetic techniques we now know that certain aberrations in Man are caused by chromosomal anomalies, and that these aberrations also affect the de- velopment of the dermatoglyphics of the fetus. Dermatoglyphics of various syn- dromes such as the Langdon-Down Syn- drome and the Turner’s Syndrome have come into diagnostic use. The need for studies of the dermatoglyphics of chromo- somally abnormal children is particularly important where dermatoglyphics may be the most easily recognized feature of the phenotype. Early recognition may lead to better control of the condition. Another factor that must be recognized is that dermatoglyphic variations due to chromosomal anueploidy may be mis- represented as a population variation, since there are chromosomal aberrations that occur in fertile members of the species. An extra Y chromosome in human males, results in the XYY Syndrome, with fea- tures that are difficult to recognize at birth without a chromosomal examination. Der- matoglyphics are of particular interest here since it is hoped that they may serve as a diagnostic indicator allowing the screening of large populations. The need AM. J. Pays. ANTHROP., 30: 209-214. for screening is made more urgent by the knowledge that the XYY Syndrome can occur in the United States with as high a frequency as 1:300 and that defensive up- bringing of such a child can safeguard him from his inherited condition. MATERIALS AND METHODS It appears that increased stature, ag- gressive behavior and mental retardation are features that suggest the diagnosis of the XYY Syndrome. For this reason ten tall men were studied at Fairview State Hospi- tal in Costa Mesa, California. The men were selected on the basis of being greater than six feet in height and having a history of flares of aggressive behavior. The patient E. G. was 39 years old and mentally retarded. The physical history and birth history were non-contributory. Bone marrow and peripheral blood were analyzed and found to have 47 chromo- somes. The extra one was in the Ggroup and was considered to be a Y-chromosome. RESULTS The dermatoglyphics (Cummins and Midlo, ’61) of four cases of the XYY Syn- drome have been reported so far. Fraccaro 1 Supported by grants from the Mental Retardation Division Social Rehabilitation Services Department of Health, Education and Welfare, Wasdington, D.C.; The Children’s Bureau of the Department of Health, Education and Welfare; and the Department of Mental Hygiene, State of California. 209

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Dermatoglyphics of the XYY Syndrome ’ JAMSHED MAVALWALA, CHARLES E. PARKER AND JOHN MELNYK Department of Anthropology, University of California, Santa Barbara, Director, Child Evaluation Clinic, Children’s Hospital of Los Angebs, and Director of Cytogenetics Section, Department of Metabolism, Childrens Hospital of Lo8 Angeles

ABSTRACT The presence of an extra Y chromosome in Man results in a condition termed the XYY Syndrome. Such individuals are tall, exhibit aggressive behavior, and may be mentally retarded. XYY patients are usually discovered after they have com- mitted a crime. Even though relatively few XYY patients have been recorded so far in the literature the incidence of this condition in US males has been estimated at 1 in 300. Thus the majority of XYY’s lead normal lives, directing their excess aggression into legal channels. For those who do not do so, the earlier corrective educational therapy is constituted the better the result. Since dermatoglyphics are affected by chromosomal aberrations there is a need to examine the dermatoglyphics of XYY patients in order to establish specific dermatoglyphic features that can be used for diagnosis at birth.

Dermatoglyphics, because they are formed by the fourth month of fetal life and do not change thereafter except for size, have long been used as a criteria to identlfy different groups of Man. Because of improved cytogenetic techniques we now know that certain aberrations in Man are caused by chromosomal anomalies, and that these aberrations also affect the de- velopment of the dermatoglyphics of the fetus. Dermatoglyphics of various syn- dromes such as the Langdon-Down Syn- drome and the Turner’s Syndrome have come into diagnostic use. The need for studies of the dermatoglyphics of chromo- somally abnormal children is particularly important where dermatoglyphics may be the most easily recognized feature of the phenotype. Early recognition may lead to better control of the condition.

Another factor that must be recognized is that dermatoglyphic variations due to chromosomal anueploidy may be mis- represented as a population variation, since there are chromosomal aberrations that occur in fertile members of the species. An extra Y chromosome in human males, results in the XYY Syndrome, with fea- tures that are difficult to recognize at birth without a chromosomal examination. Der- matoglyphics are of particular interest here since it is hoped that they may serve as a diagnostic indicator allowing the screening of large populations. The need

AM. J. Pays. ANTHROP., 30: 209-214.

for screening is made more urgent by the knowledge that the XYY Syndrome can occur in the United States with as high a frequency as 1:300 and that defensive up- bringing of such a child can safeguard him from his inherited condition.

MATERIALS AND METHODS It appears that increased stature, ag-

gressive behavior and mental retardation are features that suggest the diagnosis of the XYY Syndrome. For this reason ten tall men were studied at Fairview State Hospi- tal in Costa Mesa, California. The men were selected on the basis of being greater than six feet in height and having a history of flares of aggressive behavior.

The patient E. G. was 39 years old and mentally retarded. The physical history and birth history were non-contributory.

Bone marrow and peripheral blood were analyzed and found to have 47 chromo- somes. The extra one was in the Ggroup and was considered to be a Y-chromosome.

RESULTS

The dermatoglyphics (Cummins and Midlo, ’61) of four cases of the XYY Syn- drome have been reported so far. Fraccaro

1 Supported by grants from the Mental Retardation Division Social Rehabilitation Services Department of Health, Education and Welfare, Wasdington, D.C.; The Children’s Bureau of the Department of Health, Education and Welfare; and the Department of Mental Hygiene, State of California.

209

210 J. MAVALWALA, C. E. PARKER AND J. MELNYK

et al. ('62) reported on the dermatoglyph- ics of one patient. Uchida et al. ('64) re- ported on the dermatoglyphics of two XYY patients and Persson ('67) has also re- ported the dermatoglyphics of an XYY patient. The dermatoglyphics of our patient E. G., Case 5, differ from the previous four in possessing, on both hands, very large, complex digital patterns, radial loops in the hypothenar area and single trans- verse flexion creases.

The fingers The ridges show no dermal dysplasia and

are strongly developed. The distinctive fea- ture of the patterns on the fingers is their large size. The patterns on many fingers even cross the boundary of the lower flex- ion crease onto the mid-phalangeal part of the finger. The large complex patterns on all ten fingers of this patient result in an excessively high total ridge count of 244 (table 1). A total ridge count of 145 was reported for normal English males (Holt, '61). The total ridge count of an XYY patient, Case 1, analyzed by Penrose (Fraccaro et al., '62) is 192, also well above the normal average. Case 2 and Case 3 of XYY patients analyzed by Uchida, Miller and Soltan ('64) display total ridge counts of 156 and 49 respectively. Case 2 is not particularly high and Case 3 is sig- nificantly low, because this patient posses- ses four arches. The dermatoglyphics of Case 4 were analyzed by Penrose ( Persson, '67). This patient had nine arches, and an ulnar loop with a ridge count of only one on the right thumb, with a conse- quently low extreme of one for the total ridge count. On the basis of previously re- ported studies (Alter, '65; Penrose, '67;

Hunter, '68) a question was raised that an excess of sex chromosomes may be associ- ated with a reduced total ridge count. This reduction is not observed in Turner's Syn- drome (Holt and Lindsten, '64) and in patients with presumptive iso-chromosomes for the long arm of X (Lindsten et al., '63). The patient E.G. reported here also does not display a reduced total ridge count.

The main lines of E. G. are transversely oriented in a fashion similar to Case 4. Case 1 has longitudinally aligned palmar main lines. Information on palmar main lines was not reported on Cases 2 and 3. There is a distinctive single flexion crease in the right palm and a less distinctive one in the left palm. An XYY patient, T.S., (Fraccaro et al., '62) displays a single flex- ion crease on his right palm. No other der- matoglyphics are reported for this patient. Case 1 and Case 4 do not possess single flexion creases. This feature is not reported for Case 2 and Case 3.

The hypothenar area in both palms dis- plays a loop opening towards the radial side with a triradius towards the ulnar border. This border or ulnar triradius was suggested by Uchida et al. ('64) as being diagnostic €or XXYY patients, since they found it in an XXYY patient but not in their two XYY cases. This border triradius is also not observed on the palms of Case 1, but is present on the left palm of Case 4. The present patient, Case 5, has distinct border triradii and therefore the sugges- tion that hypothenar radial loops with bor- der triradii are associated with the speci- fic combination XXYY, should be evalu- ated in additional cases.

The palms

TABLE 1 Finger patterns of five cases of XYY syndrome

Left hand Right hand

5 4 3 2 1 1 2 3 4 5 Case - Investigation

~ ~- ~

1 u w w w w w w u w u Fraccaro et d. ('62) 2 u u u w u U R U U U Uchida et al. ('64)

3 U U U A A U A A U U Uchida et al. ('64)

4 A A A A A U A A A A Persson ('67)

5 w w w w w w w w w w Present study

DERMATOGLYPHICS OF THE XYY SYNDROME 211

Left hand Right hand

Left sole Right sole

Fig. 1 The dermatoglyphics on the hands and soles of an XYY syndrome patient.

The thenar and interdigital areas show of 68 which is low. A low a-b ridge count is reported by Penrose on the palms of Case 1. This information is not available for Cases 2, 3, or 4. Hunter ('68) points out that with increasing X chromosomes the mean a-b ridge count tends to de-

no distinctive patterns. a-b ridge counts

The a-b ridge count of E.G. is 34 on the right hand and 34 on the left hand, a total

212 J. MAVALWALA, C. E. PARKER AND J. MELNYK

crease significantly. The increase of Y chromosomes in our patient has decreased his a-b ridge count significantly, even though previous reports (Hunter, '68; Holt and Lindsten, '64) indicate that an in- crease of Y chromosomes does not cause as great a decrease in the a-b ridge count as does the X chromosome.

Axial triradii The axial triradii are not distinctly ele-

vated, the angles being 44" on the right hand and 39" on the left hand. Cases 1 and 4 also have low triradii. This informa- tion is not available for Cases 2 and 3. It appears that an excess of Y chromosomes significantly reduces the maximal atd angle .

The soles The dermatoglyphics of the soles of XYY

patients have only been previously reported on Case 4 who had small distal loops on the hallucal axea of both soles. The hallucal areas of patient E.G. possess large loops opening distally on both soles. Both the soles also display, below the little toes, narrow loops opening towards the tibial side of the sole with clearly associated triradii peripherally situated on the fibular side of the sole. These narrow loops are a rare feature, and are not reported on the soles of Case 4.

Case 4 shows a small whorl on the right hallux and a small tibial loop on the left hallux. The patterns present on the great toes of both feet of our patient E.G. con- sist of a complex combination of a whorl with a distally placed loop which extends down to the tibial side of the whorl. This kind of pattern combination is an ex- tremely rare feature. It would be of con- siderable interest to determine whether this combination is specific in a larger series of XYY patients.

Previous studies by Uchida et al. ('64) and Alter et al. ('66) have indicated that the XXYY variant of Klinefelter's Syndrome can be differentiated using the following dermatoglyphic features : a high frequency of arches, a low total ridge count, hypo- thenar patterns incorporating border tri- radii on the ulnar margin of the palm. and

Ziegler and Lenhard, '65) with single transverse flexion creases on both hands. The total ridge count, palmar main lines, and palmar patterns were not reported. A n XYY patient with 21 Trisomy (Uchida, Ray and Duncan, '66) displayed derma- toglyphics that were typical of the 21 Tri- somy Syndrome, and an XO/XY/XYY pa- tient (Fraccaro et al., '66) had a total ridge count of 189, low axial triradii and an a-b ridge count of 78, longitudinally placed main line A on both palms, no single transverse flexion creases on either hand, and no patterns in the hypothenar areas.

DISCUSSION

Dermatoglyphics have now been reported on five cases of XYY patients. Their derma- toglyphics vary, and the case reported in this paper differs significantly from the other four. This XYY patient is distin- guished dermatoglyphically from the other patients reported in having very large, complex patterns on all ten fingers result- ing in an excessively high total ridge count, and in possessing single transverse flexion creases (simian creases). This patient also possesses hypothenar loops opening toward the radial side associated with ulnar tri- radii, a feature which had been previously suggested as being specific to an XXYY sex chromosome complement. The pat- terns on the great toes are very complex, and rare narrow fibular loops are present on both soles below the hallucal area.

The Purther dermatoglyphic analysis of XYY patients is of particular interest since at present there is no consistent clinical sign which can be used to detect this syn- drome in prepubertal children or infants.

LITERATURE CITED Alter, M. 1965 Is hyperploidy of sex chromo-

somes associated with reduced total finger ridge count? Amer. J. Hum. Genet., 17: 473-475.

AIter, M., R. Gorlin, J. Yunis, F. Peagler and H. Bruhl 1966 Dermatoglyphics in XXYY Nine- felter's syndrome. Amer. J. Hum. Genet., 18:

Cummins, H., and C. Midlo 1961 Finger prints, palms and soles. A n introduction to derma- toglyphics. Dover, New York, 45-142.

Fraccaro, M., P. Davies, M. G. Bott and W. Schutt 1962 Mental deficiency and undescended testis in two males with XYY sex chromosomes.

507-513.

single transverse flexion creases.- One' case has been reported of an XYYY (Townes, Folia Hereditaria et Pathologica, 11: 211-220.

DERMATOGLYPHICS OF THE XYY SYNDROME 213

Fraccaro, M., J. Lindsten, H. P. Klinger, L. Tie- polo, C. J. Bergstrand, K. M. Herrlin, A. Livaditis, M. Pehrson and K. G. Tillinger 1966 Cytogenetical and clinical investigations in four subjects with anomalies OP sexual development. Ann. Hum. Genet., 29: 281-304.

Holt, S. B. 1961 Quantitative genetics of finger print patterns. Brit. Med. Bull., 17: 247-250.

Holt, S. B., and J. Lindsten 1964 Dermatog- lyphic anomalies in Turner’s syndrome. Ann. Hum. Genet., 28: 87-100.

Hunter, H. 1968 Finger and palm prints in chromatin-positive males. J. Med. Genet., 5:

Lindsten, J., M. Fraccaro, D. Ikkos, K. Kaijser, H. P. Klinger and R. Luft 1963 Presumptive iso-chromosomes for the long arm of X in man. Analysis of five families. Ann. Hum. Genet., 26: 383-405.

112-1 17.

Penrose, L. S. 1967 Finger print pattern and the sex chromosomes. Lancet, I : 296-300.

Persson, T. 1967 An XYY man and his rela- tives. J. Ment. Def. Res., 2: 239-245.

Robinson, G. C., J. R. Miller, F. R. Dill and T. D. Kamburoff 1964 Klinefelter’s syndrome with the X X Y Y sex chromosome complex. J. Pediat., 65: 226-232.

Townes, P. L., N. A. Ziegler and L. W. Lenhard 1965 A patient with 48 chromosomes (XYYY). Lancet, I : 1041-1043.

1964 Dermatoglyphics associated with the X X W chromosome complement. Amer. J. Hum. Genet.,

1966 21 trisomy with a n XYY sex chromosome complement. J. Pediat., 69: 295-298.

Uchida, I. A,, J. R. Miller and H. C. Soltan

16: 284-291. Uchida, I. A., M. Ray and B. P. Duncan