Hereditas 106: 13!9-145 (1987)

Variation studies of fingerprints in XXY Klinefelter’s syndrome ANDERS RIGNELL

Institute of Genetics, University of Lund, Sweden

RIGNELL. A. 1987. Variation studies of fingerprints in XXY Klinefelter’s syndrome. - Herediras 106: 139-145. Lund, Sweden. ISSN 0018-0661. Received April 15,1986

A sample of 20 patients with Klinefelter’s syndrome is presented and the results of the investigation of digital dermatoglyphics are compared with those of related and unrelated males. The extra X-chromosome does not seem to affect the variation width. The variation of the quotient as well as the correlation figures for mean distancehean number of ridges appear unchanged as to sex. This is in agreement with the hypothesis of the genes of the papillary patterns being located in the autosomes and hence not being affected by sex or sex chromosome aberrations.

The total ridge-count (TRC) shows a significant difference incomparison with the figures from the control samples. The patients indicate the same tendency as found in other investigations, their mean value being lower.

The distribution of the dermatoglyphics among patients is presented and roughly compared with the frequencies among the control sample of 145,000 individuals. Results of earlier investigations are summarized.

Anders Rignell, Institute of Genetics, University of Lund, Solvegalan 29, S-22.3 62 Lund, Sweden

Inspired by Darwin and his hypothesis on the origin of species, several scientists, during the second part of the 19 th century and later, started investigations on digital and palmar pattern configurations. These studies were made on human materials as well as in samples of monkeys and apes (HEIDENHAIN 1906; DEBRUNNER 1955; BIEGERT 1959; BREHME and BAITSCH 1964). The result of this research pointed to a higher presence of whorl patterns among more primitive species of animals, indicating these der- matoglyphics to be more original than, e.g., the loops. Observations supporting this finding is that dermatoglyphics other than whorls are found only among apes and man.

The aim of papillary ridge formations seems to be to increase the friction between the skin and the underlying surface. Tree-living species of monkeys funtionally have more use for a sufficient footing on branches and trunks and hence have a higher inci- dence of whorl patterns. Another important use of the dermatoglyphics is to make holding of the food more easy.

Most scientists agree that the design of the papil- lary patterns is due to genetic factors (HOLT 1970). These factors work in different “fields”, and so it is possible to imagine genes regulating skin thickness, size of volar and digital fat pads, degree of coarse- ness of the skeleton, growth rapidity of the skele- ton, degree of pressure from the skelton on the

covering skin surface, and longitudinal growth rate of hands and feet. Besides these genes, there probably are several others giving the single pattern its unique design.

The aim of the present investigation is to study if the presence of a supernumerary X chromosome affects the variation of pattern design or if the diffe- rences between Klinefelter patients and healthy people are limited to the pattern frequencies and the TRC (total ridge-count).

Wider variation possibilities, if found among patients, would indicate the presence of genes re- gulating other ectodermal structures than only the pattern type, and being located in the X chromo- some.

Klinefelter’s syndrome includes several types of chromosomal pictures, XXY and XXYY being the most frequent. Patients with various types of mosai- cism have also been diagnosed. In the present study 16 males of the classic XXY type are investigated with reference to the digital fingerprints. The in- vestigation is made using a quotient method when describing the variation of the patterns (HALL and RIGNELL 1976). Earlier published studies of digital dermatoglyphics in this syndrome are presented in Table 1. Articles on dermatoglyphics in the XXYY- syndrome have been published by UCHIDA et al. (1964); ALTER^^. al. (1966); ~ ~ ~ B O R G A O N K A R ~ ~ . al. (1970).

140 A. RIGNELL Hereditas 106 (1987)

Table 1. Previous investigations of digital dermatoglyphics in male patients with Klinefelter's syndrome (XXY)

Author

No. of Frequencies of Mean

pat Karyotypes arch r loop u loop whorl TRC

FORBES 1964 UCHIDAet. al. 1964 HOLT 1968 HUNTER 1968 CUSHMAN and SOLTAN 1969 WISNIEWSKIet al. 1969 WISNIEWSKIetal. 1971 BORGAONKAR and MULES 1970 SULIKOVA et al. 1971 KOMATZandYOSHIDA 1976 SHIONOet al. 1977

P~TREMAND-HYVARINEN 1978 SALDANA-GARCIA 1979 HRECZKO and SIGMON 1980

24 23 36 12 55 18 20 21 1 1 48 28

9 80 25

XXY XXYY XXY XXY XXY XXY XXY XXY XXY XXY 24 XXY 2 XXYY I XXXY 1 XXXXY

XXY XXY x x Y Y , X X X

3.4 1.3 6.5 4.4 5.8

12.60 8.40 7.8 4.0 5.0 8.0 5.5 8.0 4.8

15.4 1.9 3.3 2.3

6.1%) l . l * )

3.3 3.3 8.5 5.5 2.9 4.9

53.7 28.5

62.8 26.9 39.50 39.50

64.8 26.2 57.5 27.0 56.0 31.2 53.6 29.1 53.3 41 .I)

39.3") 53.47

47.8 46.7 50.0 35.6 56.2 35.8

122.17 118.67 121.7 118.0

105.24 94.5

125.91

12X.8")

124.9 119.4 118.3

'All karyotypes * * TRC calculated in 24 XXY patients

Material My material of Klinefelter patients consists of two samples. 10 patients and their male relatives have been sampled by me in the southern part of Sweden (Gotaland). The diagnosis of these patients has been settled with chromosomal investigation and gonadotropin tests.

Ten patients have been sent to me by Dr. Med. Johannes Nielsen, Cytogenetic Laboratory, Aarhus, Denmark. These patients have been sampled in Jylland, Denmark, and the diagnosis has been settled with the help of chromosomal analysis. In these cases it was not possible to reach the rela- tives. Therefore I have been forced to compare them with the unrelated samples only. Both parts of the patient material consist of individuals with the karyotype XXY. No persons with other karyotypes or chromosomal mosaicism have been included.

The unrelated samples are three different ones: 171 chromosomally normal males were selected at random as were the two materials of twins, 34 monozygotics and 44 dizygotics. One of the dizygo- tie twins had.no plain ulnar loops, which is compen- sated for in the results. The comparisons with the twins are made to study the degree of uniformity in the patient group.

Methods The variation of the ridge-count between the pattern centre and the triradius and the correspond- ing distance were studied in the plain ulnar loops on all fingers, the distance being measured using a ruler with magnifying glasses allowing measure- ments with an accuracy of * 0.1 mm.

The quotient for the number of ridges per unit of length was calculated (HALL and RIGNELL 1976). The mean distances and the mean number of papil- lary ridges were also stated.

A comparison was made within individuals in the different samples and the correlations between the mean number of ridges and the corresponding mean distance of the plain ulnar loops were compared.

The variation of the total ridge-counts (TRC) and the quantitative values in the materials were taken into consideration. Pattern types were classified according to Eriksson (RIGNELL and SJOKVIST 1983) (Fig. 1).

The material of 145,000 persons presenting pat- tern frequencies originates from a computer samp- le of criminals in Sweden (ERIKSSON 1976). They are, however, proportionally representing density of settlement, social groups, income, profession etc. They can, accordingly, represent the general

Hereditas 106 (1987) FINGERPRINTS I N XXY KLINEFELTER'S SYNDROME 141

ARCHES............... ...... ..................................... 1

............... .................................... TENTED A R C H I S a

LOOPS .....

........ 5

CJSCULAR PATTEF2iS. .......... ................................... 6

SPECIAL LOOPS. I

.................................... 7

AMPUTATIOAS Am DESTROYED PATTERIIS.. ...................................... 9 Fig. 1. The 9 main groups and 8 subgroups of the Swedish finger tip classification.

population in dermatoglyphic studies of this kind (Table 2).

Results The distribution of fingerprints, in the sample presented, is seen in Table 3.

The variation of the mean ridge-count in the

fingers of the parents and the sibling group indicates no significant difference within individuals. The variation among patients is similar (Table 4).

The mean distance between the triradius (delta) and the pattern centre does not vary significantly within the individual when fathers and siblings are compared with patients (Table 5).

The quotients for the number of ridges per unit of length within each individual of the different

142 A. RIGNELL Herediras 106 (1987)

Table 2. Pattern frequencies in the Swedish population according to ERIKSON 1976 (n = 145,000)

Pattern- Finger type I I1 111 IV V VJ VII VIII IX X

1 1.85 6.77 2 0.17 10.24 3 0.05 17.59 4 49.36 23.32 5 4.29 8.13 6 14.85 13.90 7 16.50 13.15 8 12.45 5.72 9 0.34 1.02 0 0.10 0.10

4.92 1.37 0.89 3.97 6.34 6.20 1.84 1.22 4.19 1.27 0.81 0.27 9.94 5.17 1.57 1.29 1.12 0.39 0.05 0.04 16.70 1.38 0.15 0.01

65.84 35.50 72.87 59.45 27.82 64.13 48.00 77.72 4.40 12.69 9.41 4.02 7.61 4.73 13.81 8.74 8.00 27.04 4.59 8.64 11.89 7.59 19.10 3.22 8.58 19.58 9.93 8.40 12.72 7.01 12.38 5.57 2.01 1.37 0.69 14.65 5.85 2.82 2.41 1.46 0.80 0.65 0.59 0.41 1 .oo 0.85 0.63 0.62 0.10 0.10 0.12 0.08 0.08 0.07 0.07 0.11

The figures are numbered from I-X, starting with the right thumb and ending with the left little finger. Group 0 represents patterns not available for classification because of wounds, bandages etc.

Tuble 3. Frequencies of fingertip patterns in XXY-syndrome

Pattern type Right hand Per cent Left hand Per cent Both hands Percent

1 22 11.00 22 11.00 44 11.00 2 4 2.00 0 4 1.00 3 8 4.00 4 2.00 12 3.00 4 106 53.00 124 62.00 230 57.50 5 2 1.00 4 2.00 6 1.50

7 12 6.00 8 4.00 20 5.00 8 8 4.00 2 1 .oo 10 2.50 9 0 0 0 0 0 0 0

Totalno. 200 100.00 200 100.00 400 100.00

6 38 19.00 36 18.00 74 18.50

Group 0 represents patterns not available for classification because of wounds, bandages etc

Table 4. Variances of the mean number of ridges in the digital dermatoglyphics within the individual, f-tests of XXY-patients related individuals and controls

No. of df Groups cases Mean SE I pairs P

6 Patients Fathers

Patients Brothers

Fathers Brothers

5

4

12.0090 13.8181

10.9886 13.2119

14.8000 12.2649

1.055 2.063

1.158 2.002

3.051 2.277

-0.78

-0.96

0.67

>0.4

>0.3

X 1 . 5

No.of Groups cases Mean SE I df P

Malecontrol 171 10.9702 0.236 -0.39 185 x t . 6 Male MZ 34 13.0917 0.556 -2.35 48 >0.n2

Patients 16' 10.6054 0.898

Male DZ 43** 11.8004 0.543 -1.14 57 N . 2

'Four patients had no plain ulnar loops '*One twin had no plain ulnar loops. This is compensated for in the statistical results

Hereditas 106 (1987) FINGERPRINTS IN XXY KLINEFELTER'S SYNDROME 143

Table 5. Variances of the mean distance between triradius and pattern centre within the individual, t-tests of XXY-patients, related individuals and controls

No.of df Groups cases Mean SE r-value pairs P

-1.11 5 >0.2

-0.77 4 >0.4

0.74 3 >0.4

78.6068 7.733 90.5016 7.368

73.0476 8.574 84.7286 12.531

92.4920 10.854 79.0982 14.453

6 Patients Fathers

Patients Brothers

Fathers Brothers

5

4

No.of Groups cases Mean SE t df P

Patients 16* 73.1596 5.676 Malecontrol 171 71.5391 1.256 0.28 185 >0.7 Male MZ 34 84.1378 3.115 -1.70 48 >0.05 Male D Z 43" 76.7832 3.087 -0.56 57 >0.5

'Four patients had no plain ulnar loops **One twin had no plain ulnar loops. This is compensated for in the statistical results

Table 6 . Variances of the quotient (number of ridges per unit of length) within the individual, t-tests of XXY-patients, related individuals and controls

No. of df Groups cases Mean SE t-value pairs P

6 Patients Fathers

Patients Brothers

Fathers Brothers

5

4

0.45 5

-0.57 4

-0.07 3

0.1545 0.007 0.1487 0.011

0.1519 0.007 0.1565 0.004

0.1547 0.017 0.1560 0.006

M . 6

>0.5

>0.9

No.of Groups cases Mean SE t df P

Patients 16' 0.1431 0.005 Malecontrol 171 0.1522 0.002 -1.69 185 >0.05 Male M Z 34 0.1556 0.003 -2.16 48 >0.02 Male D Z 43'' 0,1529 0.003 -1.69 57 >0.05

*Four patients had no plain ulnar loops **One twin had no plain ulnar loops. This is compensated for in the statistical results

materials show no significant difference when the patients are compared with the related control samples (Table 6).

The correlation between the mean distance between the triradius and the plain ulnar loop centre and the mean number of ridges is r = 0.94 among patients, r = 0.95, 0.95, and 0.89 among fathers, siblings, and unrelated males, respectively (Table 7). The corresponding figures are r = 0.88

for dizygotes and r = 0.85 for monozygotic twins. Hence no statistically significant difference can

be detected. The figures of the distance variables are strongly

connected with the age ranges of the materials concerned, which makes them less interesting when considered alone, yet they are included in order to give a complete picture.

The total ridge-count in the patient material is

144 A.RlGNELL Hereditas 106 (1987)

Table 7. Correlation coefficients of mean distancehean number of ridges within the individual

No. of Subfile cases r P

XXY 16' 0.9427 <0.001 XXY fathers 7 0.9474 0.001 XXY brothers 7 0.9463 0,001 Male controls 171 0.8936 <0.001 Dizygotic males 43" 0.8760 <O.OOl Monozygotic 34 0.8452 <0.001

'Four patients had no plain ulnar loops **One twin had no plain ulnar loops. This IS compensated for in the statistical results

much lower, being M =101.8 compared with the figures of the parents (M = 141.5) and the siblings (M = 148.8). The variability of the total ridge-count indicates the greatest value within the sibling group and the lowest among patients. No significant difference is to be seen between the related samples.

Discussion My investigation, using the quotient method, suggests no statistically significant variation within individuals when comparing chromosomally normal persons with Klinefelter patients as to fingertip patterns. These findings are supported by the corre- lations between the mean number of ridges between pattern centre and triradius on the plain ulnar loop and the corresponding mean distance. The data suggest that an extra X-chromosome does not interact with the formation and the variation of the plain ulnar loop in Klinefelter's syndrome. This fact speaks for genes regulating the pattern design not being located to the X-chromosome. Aneuploi- dy for the sex chromosomes does not seem to have the dramatic influence on the formation of the ridge as do autosomal aberrations.

In trisomy 21 the variation width of the pattern types is significantly greater than in the general population (RIGNELL 1985), although the Down's syndrome patients present higher frequency figures of the plain ulnar loops. The correlation between the mean distance and the mean number of ridges is also considerably lower among these patients (r=0.76), which indicates greater possibilities to vary pattern design.

The significantly higher variability of Down's syndrome, compared to the general population, is

also reflected in the incidence of palmar dermato- glyphics and the altered frequencies of thenarl hypothenar pattern combinations (RIGNELL 1987).

There are, however, some parameters which differ when the XXY- syndrome is compared with a chromosomally normal material with regard to the design of the finger-tip patterns. Several scientists have reported an inverse semiquantitative relation- ship between the number and type of sex chromo- somes and the ridge-count on fingers (ALTER 1965; PENROSE 1968).

Penrose (1967) reported that the size of a cell is influenced by a supernumarary sex chromosome, the extra chromosome decreasing the fluid content of the cell; the more sex chromosomes, the lower the fluid content.

PENROSE (1968) also noted that the presence of additional X-chromosomes in males affects the sum of the total ridge-count (TRC).

A general tendency for ridge breadth to increase with the increasing number of sex chromosomes has been shown. This tendency can also be seen when the quotients within the individual in the samples of healthy persons are compared with the corresponding figure of the patients (Table 6).

The total ridge-count is the variable which is the most affected by the supernumerary X-chromo- some. Several authors have described this phe- nomenon (PENROSE 1963,1968; FORBES 1964).

PENROSE (1963) also suggests that the lower total ridge-count in XXY-patients is to be assigned to the general reduction in pattern size. This suggestion is supported by the results of FORBES (1964).

PENROSE and LOESCH (1969) suggested that the ulnar loop ridge-count for separate fingers was also reduced, They and other authors have noted a ten- dency towards an increased breadth of the ridges (CUSHMAN and SOLTAN 1969; WISNIEWSKY et. al. 1969). This may suggest that fewer ridges sufficed to cover the pattern area.

The result of this investigation agrees with the fact that there exists a reduced total ridge-count in the patient group, M = 101.8 compared with the figures of the related samples (M = 141.5 and 148.8 among parents and siblings, respectively). As pre- viously said, I also agree that there might be a general tendency for ridge breadth to increase with an increasing number of sex chromosomes.

I do not, however, agree that the slightly increas- ed frequency of arch patterns of the finger-tips is itself the entire explanation of the low total ridge- count among patients. I think that there might be a cooperation between the general reduction in pattern size, broader ridges and the slightly higher

Hereditas 106 (1987) FINGERPRINTS I N XXY KLINEFELTER’S SYNDROME 145

frequency of arches. This is in agreement with the results found by PREUS and FRASER (1972), further supporting the proposition that only genes affecting skin thickness and, thereby, the ridge-count are located in the X chromosome; the higher the num- ber of X-chromosomeslgenes present, the lower the number of ridges. This proposal is in accordance with the findings in the XYY syndrome where the aberration only affects the ridge-count and not the variation width of the patterns (RIGNELL and S J ~ - KVIST 1987, in manuscript).

Acknowledgements. - Warm thanks to patients who have par- ticipated in this study, to Dr. Med. Johannes Nielsen, Cytogenetic Laboratory, Aarhus, Denmark, and to Mrs Ritha Minicz, Horby, for her kind help with the typing work.

Literature cited ALTER. M. 1965. Is hyperploidy of sex chromosomes associated

with reduced total finger ridge-count? -Am. J. Hum. Genet. 17: 473-475

ALTER, M., GORLIN. R. , YUNIS, J . , PEAGLER, F. and BRUHL. H . 1966. Dermatoglyphics in XXYY Klinefelter’s syndrome. - Am. J . Hum. Genef. 18: 507-513

BIEGERT, J . 1959. Die Ballen, Leisten, Furchen und Wagel von Hand und Fuss der Halbaffen. - Z. Morphol. Anthropol. 49: 31-09

BORGAONKAR. D.S. and MULES, E. 1970. Comments on patients with sex chromosome aneuploidy: dermatoglyphics, parental ages, Xg’ blood group. - 1. Med. Genet. 7:345-350

BORGAONKAR. D.S. MULES. E. and CHAR, F. 1970. Do the 48 XXYY males have a characteristic phenotype? - Clin. Genet. 1:

BREHME, H . and BAITSCH. H. 1964. Die Hautleistenmuster auf den Hand und Fussflachen der hoheren Primaten (Superfamilie Hominoidea) -. Studium Generale 17: 442-451

CUSCHMAN. C.I. and SOLTAN. H.C. 1969. Dermatoglyphics in Klinefelter’s syndrome (47,XXY). -Hum. Hered. 19: 641-653.

DEBRUNNER. I . M . 1955. Morphologischer Grundplan der Ballenbedingten Furchen bei Primaten. - 2. Morphol. Anthro- pol. 47: 187-210

ERIKSSON, S.A. 1976. Fingerblommemonsternas systematik. - Int. PoliceRev. 1976, No. 3000, p. 194

FORBES. A.P. 1964. Fingerprints and palm prints (dermatogly- phics) and palmar flexion creases in gonadal dysgenesis. pseudohypoparathyroidism and Klinefelter’s syndrome. - N. Engl. J . Med. 270: 1268-1277

HALL. 8. and RIGNELL. A. 1976. High variability in mongoloid dermatoglyphics. - Clin. Genef. 9: 6 0 M 0 8

HEIDENHAIN, M. 1906. uber die gegenseitige Entsprechung von Epidermis und Coriumleisten an der Beugeflache von Hand und Fuss bei Affen und Menschen. -Anat. Hefte 30: 419- 431

HOLT. S.B. 1968. Dermatoglyphics and sex chromosomes. - In

272-293

The Genetics of Dermal Ridges, C.C. Thomas Publisher, Springfield, Ill .

HOLT, S.B. 1970. Dermatoglyphics in mongolism. - Ann. N. Y. Acad. Sci. 171: 602416

HRECZKO. T.A and SIGMON, B. 1980. The dermatoglyphics of a Toronto sample of children with XXY, XXYY and XXX aneuploidies. -Am. 1. Phys. Anthropol. 52: 33-41

HUNTER, I. 1968. Finger and palm prints in chromatin-positive males. - J. Med. Genet. 5: 112-117

KOMATZ. Y and YOSHIDA. 0. 1976. Finger patterns and ridge- counts of patients with Klinefelter’s syndrome (47,XXY) among the Japanese. -Hum. Hered. 26: 290-297

PENROSE, L.S. 1963. Finger-prints, palms and chromosomes. - Nature 197: 933-938

PENROSE. L.S. 1967. Finger-print pattern and the sex chromo- somes. -Lancet (I): 298-300

PENROSE, L.S. 1968. Medical significance of finger-print and related phenoma. - Er. Med. J . 2: 321-325

PENROSE. L.S. and LOESCH, D. 1969. The effect of sex chromo- somes on some characteristics of dermal ridges on palms and fingertips. - Genet. Pol. 10: 328-333

P~TREMAND-HYVARINEN. R. 1978. Aspects morphologiques et dermatoglyphiques du syndrome de Klinefelter 47. XXY. - J . Genet. Hum. 26: suppl. 1-83 Nov.

PREUS. M. and FRASER, F.C. 1972. Dermatoglyphics and Syn- dromes. -Am. I . Dis. Child. 124: 933-943

RIGNELL , A. 1985. Significant dermatoglyphic variations in trisomy 21 (Down’s syndrome). - 1. Ment. Defic. Rec. 29; 331-347

RIGNELL. A. and SJOKVIST. K-E. 1983. A Swedish method of fingerprint classification. - Hereditas 98: 115-125

RIGNELL. A. 1987. Simian crease incidence and the connection with thenar and hypothenar pattern types in Swedish patients with trisomy 21 (Down’s syndrome). -Accepted for publication in Am. J . Phys. Anfhropol.

RIGNELL. A. and SJOKVIST. K-E. 1987. XYY-syndrome and fingerprints. - In manuscript.

SALDANA-GARCIA, P. 1979. Dermatoglyphics in sex chromoso- me anomalies. - J . Ment. Defic. Res. 23: 91-104

SHIONO. H. , KADOWSKI. J . I . , TANDA. H. and HIKTA, M. 1977. Dermatoglyphs of Klinefelter’s syndrome. - J . Med. Genet. 14:

SULIKOVA, Z . , IZAKOVIC. V. and MKHNACOVA-SPENCEOVA. 1971. DermatoglyfickC ntilezy na dlani a prstoch r6k pri gonozo- movjrch anomaliach a testikullrnej feminizacii. - Vniti Lek. 17:

UCHIDA. I., MILLER, J.R. and SOLTAN. H.C. 1964. Dermato- glyphics associated with the XXYY chromosome complement. - Am. J . Hum. Genef. 16: 284-291

WISNIEWSKI. L., BARTNIK. B., GAWRONSKA, H. , KORSAK, E. and DZIESKO-LEBENSZTEIN. T. 1969. Behaviour of palmar dermatoglyphics in syndromes with chromosomal aberrations. - Genet. Pol. 10: 316-322

WISNIEWSKI. I.., GAWRONSKA, H. and DZIESKO- LEBENSZTEIN. T. 1971. Dermatoscopic and cytogenetic studies in the parents of children with congenital anomalies and in per- sons with Down’s and Klinefelter’s syndromes. - Genef. Pol. 12: 621431

187-189

729-740