analysis of the dermatoglyphics in turkish patients with klinefelter's syndrome
TRANSCRIPT
Analysis of the dermatoglyphics in Turkish patients with Klinefelter’ssyndrome
F. SIRRI CAM1, DAVUT GUL2, YUSUF TUNCA2, TEVHIDE FISTIK3,
MUJGAN OZDEMIR ERDOGAN3, HANDAN YILDIZ3, SOLMAZ ERDEM2 and MUSTAFA SOLAK3
1Department of Medical Biology and Genetics, Faculty of Medicine, Celal Bayar University, Manisa, Turkey2Department of Medical Genetics, Gulhane Military Medical Faculty, Ankara, Turkey3Department of Medical Biology, Faculty of Medicine, Afyonkarahisar Kocatepe University, Afyonkarahisar,
Turkey.
Cam, F. S., Gul, D., Tunca, Y., Fıstık, T., Erdogan, M. O., Yıldız, H., Erdem, S. and Solak, M. 2008. Analysis of
the dermatoglyphics in Turkish patients with Klinefelter’s syndrome. * Hereditas 145: 163�166. Lund, Sweden. eISSN
1601-5223. Received December 21, 2007. Accepted May 5, 2008
The word ‘‘dermatoglyphics’’ indicates study of epidermal ridge configuration on palms, soles and fingertips. This
investigation was aimed to analyze dermatoglyphic patterns in Klinefelter’s syndrome (KS) patients. The study cohort
consisted of 57 cases and 25 controls. The prints were taken by using the ink method. Fingertip patterns, triradial counts, a-t-
d angle and a-b ridge count were studied. There were significant differences in radial loops and whorls (pB0.05), and there
were very highly significant differences in arches (pB0.001) in KS patients as compared to controls. Dermatoglyphic
patterns at the hypothenar area (pB0.05), and areas between at the I. interdigital and thenar sites (pB0.001) have been
found to be significantly different in KS patients compared to controls. Total ridge counts (TRC), a-b, a-t-d angels were not
different in the two groups (p�0.05). A definite correlation between the dermatoglyphic patterns and the KS has been
shown.
Davut Gul, Department of Medical Genetics, Gulhane Military Medical Faculty, TR-06018 Etlik, Ankara, Turkey. E-mail:
The dermatoglyphics analysis is defined as the study of
the morphology and distribution of ridged skin
patterns on the palmar surface of hands and feet.
There are three major classes of fingerprints: arches,
loops and whorls (Fig. 1). Loops can be defined as
radial or ulnar. Ulnar loops open towards the little
finger and radial loops open towards the thumb
(FOGLE 1990). The dermatoglyphic patterns of hands
and feet are formed during early fetal life between the
7th and 21st week of gestation and remain essentially
unchanged thereafter. Consequently, these traits can
be used as easily accessible tool in the study of genetic
and environmental factors that influence prenatal
development and as one of the diagnostic features in
certain chromosomal anomalies, syndromes and con-
genital malformations (ARACELI et al. 2002). Dermal
sample evaluation was done by Cummins for the first
time in 1961 on patients with Downs syndrome
(MATSUYAMA and ITO 2006). To date, these analysis
have been used as a complementary method in
the diagnosis of several diseases (WEINREB 1985;
BASARAN et al. 1988; SIMSEK et al. 1998; POLAT
et al. 2000; GUPTA and PRAKASH 2003; KUMAR and
MANOU 2003; MILICIC et al. 2003; GOSHIMA et al.
2004; POLOVINA et al. 2006).
There are many reports on the relationship between
dermatoglyphics and sex chromosome anomalies,
including Klinefelter’s and Turner’s syndromes
(HOLT and LINDESTEN 1964; CUSHMAN and SOLTAN
1969; SHIONO et al. 1977; PETREMAND-HYVARINEN
1978). Klinefelter’s syndrome (KS) is the most com-
mon chromosomal abnormality in humans. Indivi-
duals with KS have underdeveloped testes and are
sterile. The distribution of body hair and the pattern
of distribution of subcutaneous fat are like of the
female type. Some enlargement of mammary glands
often occurs and there may be mental retardation.
Several studies of dermatoglyphics in KS patients have
been published. They point to the need to fully
characterize the phenotype of KS by evaluating
dermatoglyphics, an accessible phenotypic measure
of embryologic development.
In the present study, we aimed to determine whether
the dermatoglyphics of patients with KS and of
normal controls differ.
METHODS
A total of 57 patients with KS were studied. Control
subjects consisted of 25 males. They are all unrelated
and without obvious physical defects. All subjects and
controls were Caucasian. Classical cytogenetic studies
consisted of evaluation of at least 20 GTG-banded
Hereditas 145: 163�166 (2008)
DOI: 10.1111/j.2008.0018-0661.02049.x
mitoses of 72 h cultivated peripheral blood. All
patients had 47, XXY karyotype.
Dermatoglyphic samples were taken by using paper
and stamp-ink method. The dermatoglyphic patterns
were recorded and parameters like fingertip patterns
(ulnar loops, radial loops, whorls, arches), total ridgecounts (TRC), ‘‘a-t-d’’ angle and a-b ridge count were
studied. Only clear prints were classified into digital
patterns � arches, loops and whorls and ridge counting
were done using a hand lens. Each fingerprint was
scored independently by two observers.
Statistical analysis
The data were analyzed statistically using the student’st-tests for matched or unmatched pairs as appropriate
for TRC, a-t-d angles and a-b ridge counts. p-values
less than 0.05 were considered statistically significant.
RESULTS
Pattern frequencies in KS patients and controls are
shown in Table 1. The comparison of the fingerprintpatterns of KS patients and controls show that there
were significant differences in radial loops and whorls
(pB0.05), and there were very highly significant
differences in arches (pB0.001). No significant differ-
ences were seen in ulnar loops (p�0.05).
Results of the TRC, a-b, a-t-d angels of all
individuals are illustrated in Table 2�4, respectively.
There were no significant differences between any of
them (p�0.05).As seen in Table 5, significant differences were
found in dermatoglyphic patterns at the Hypothenar
area (pB0.05), and areas between at the I. interdigital
and thenar sites (pB0.001), but not at the II, III and
IV interdigital areas (p�0.05) between KS patients
and controls with respect to dermatoglyphic patterns.
In the affected group, six patients (6%) had Simian
line (Table 6). There is no significant differencebetween groups at palmar creases (p�0.05).
DISCUSSION
To our knowledge, these results represent the first
report describing dermatoglyphics in individuals with
KS from Turkey.
KOMATZ et al. (1979) reported three statistically
different dermatoglyphic findings on the soles ofeighty Japanese Klinefelter’s syndrome (47, XXY)
patients. These were: (a) distal loops in the hallucal
area are smaller; (b) pattern intensity is higher, and; (c)
Fig. 1A�D. The representative examples of dermatoglyphic patterns. (A) arch; (B) ulnar loop; (C) radial loop; (D) whorl.
Table 1. The frequencies of fingertip patterns of patients and controls.
Groups n Fingertip patterns Left hand Right hand Total
V IV III II I I II III IV V
Patients 57 A 10 14 15 13 4 3 15 15 10 11 118***UL 44 19 27 22 50 48 17 23 21 40 311RL 0 0 0 2 0 0 10 0 0 0 12*W 2 24 15 20 4 6 15 20 25 6 137**
Controls 25 A 0 0 1 0 2 0 0 0 1 0 4UL 9 21 10 19 20 26 16 11 25 10 167RL 0 1 01 0 1 1 1 0 0 1 5W 4 6 13 12 3 7 16 5 5 3 74
A (arch): pB0.001***; t�6.38; SD�2.5.UL (ulnar loop): p�0.05; t�1.05; SD�2.5.RL (radial loop): pB0.05*; t�4.70; SD�2.5.W (whorl): pB0.01**; t�5.64; SD�2.5.SD: standart deviation (total fingerprint patterns of patients are 578 because of it could not take a sample from some fingers).
164 F. S. Cam et al. Hereditas 145 (2008)
the frequency of triradius p is elevated. In another
study, KOMATZ et al. (1981) showed that the whorls
and distal loops of the Klinefelter’s patients had
significantly fewer ridges. In another report from
Japan, more whorls and fewer ulnar loops were
present in Japanese compared to Caucasian patients.
SHIONO et al. (1977) suggested that an increase in the
number of X or Y chromosomes decreased the a-b
ridge count in a similar way to the decrease in total
finger ridge count. Frequency of each fingerprint type
significantly differs depending on ethnicity, finger and
gender.
THAN et al. (1998) observed decreases of TRC, a-b
count and a-t-d angle and concluded that the derma-
toglyphic examination, especially in the case of a
difficult differential diagnosis, can be a great help to
the clinician and the geneticist. UCHIDA et al. (1964)
reported that mean total finger ridge count was
reduced, arch patterns on fingers and frequency of
triradii along the ulnar border of the hypothenar area
were increased in seven patients with XXYY KS.
Dermatoglyphic features were also studied in several
other types of sex chromosomal aberrations, including
XYY and XXXYY. Although an increased frequency
of arches and a lower total finger ridge count were
found, none of the patients had an ulnar triradius.
Therefore, UCHIDA et al. (1964) suggested that the
ulnar triradius might be characteristic of the XXYY
karyotype. Similar to our results, HUNTER (1968)
showed that digital arch patterns increased in KS. It is
Table 2. A comparison of total ridge counts (TRC) in
patients and controls.
Groups n Mean SD 95% interval
Patients 57 149.55 2.61 138.1�160.36*Controls 25 158.24 3.13 151.7�194.69
p�0.05*; t�2.06.
Table 3. A comparison of the a-b ridge counts in
patients and controls.
Groups n Mean SD 95% interval
Patients 57 78.64 2.01 64.56�87.23Controls 25 82.20 1.84 78.38�86.02
p�0.05; t�1.95.
Table 4. A comparison of atd angles in patients and
controls.
Groups n Mean SD 95% interval
Patients 57 81.19 2.45 73.70�87.31Controls 25 82.52 1.89 78.61�86.43
p�0.05; t�0.78.
Table 5. The frequencies of patterns in the Th/I., II., III., IV., interdigital and hypothenar areas of the palm among
patients and controls.
Groups n Dermatoglyphic area
Th/I.(%) II.(%) III.(%) IV.(%) Hypothenar.(%)
Patients 57 40 (35.08)*** 12 (10.52) 86 (75.43) 40 (35.08) 61 (53.50)***Controls 25 5 (10) 6 (12) 37 (74) 17 (34) 15 (30)
Th/I: pB0.001***; t�5.40; SD�1.2.II: p�0.05; t�2.07; SD�1.2.III: p�0.05; t�1.93; SD�1.2.IV: p�0.05; t�2.16; SD�1.2.Hypothenar: pB0.01***; t�4.35; SD�1.2.SD: standart deviation.
Table 6. Number of the abnormal palmar creases and their frequencies in patients and controls.
Groups n Simian (%) Sydney (%) Other (type I) (%)
Patients 57 6 (5.26) 0 (0) 0 (0)Controls 25 3 (6) 0 (0) 0 (0)
p�0.05; t�2.28; SD�1.6.SD: standart deviation.
Hereditas 145 (2008) Dermatoglyphics in Klinefelter’s syndrome 165
also demonstrable that the presence of an X chromo-
some has approximately twice the effect on finger
pattern size reduction as Y chromosome (PENROSE
1968).Since, there were higher frequencies of radial loops,
whorls and arches and dermatoglyphic pattern differ-
ences in hypothenar area and areas between I.
interdigital and thenar sites in KS patients in the
present study, it may be postulated that a definite
correlation between the dermatoglyphic patterns and
the KS may exist.
Given the expenses involved in conducting analysisof chromosomes themselves, dermatoglyphics can
prove to be an extremely useful tool for preliminary
investigations into conditions with a suspected genetic
base. But further studies have to be done with a large
sample size in order to evaluate the significance of
these variations in the dermatoglyphic features in the
KS individuals.
REFERENCES
Araceli, R., Lourdes, F., van Os, J. et al. 2002. Furtherevidence that congenital dermatoglyphic abnormalitiesare associated with psychosis: a twin study. � Schizo-phrenia Bull. 28: 697�701.
Basaran, N., Hassa, H., Solak, M. et al. 1988. Dermato-glyphic analysis in Diabetes Mellitus, insulin dependentand non-insulin dependent. � Clin. Genet. 33: 460.
Cushman, C. J. and Soltan, H. C. 1969. Dermatoglyphics inKlinefelter’s syndrome (47, XXY). � Hum. Hered. 19:641�653.
Fogle, T. 1990. Using dermatoglyphics from down syndromeand class populations to study the genetics of a complextrait. � In: Goldman, C. A. (ed.), Tested studies forlaboratory teaching. Vol. 11. Proc. 11th Workshop/Conf.Ass. Biol. Lab. Education (ABLE), pp. 129�150.
Goshima, S., Fagundes-Neto, U. and Morais, M. B. 2004.Dermatoglyphics of children with chronic constipation.� Arq. Gastroenterol. 41: 37�41.
Gupta, U. K. and Prakash, S. 2003. Dermatoglyphics: astudy of finger tip patterns in bronchial asthma andits genetic disposition. � Kathmandu Univ. Med. J. 1:267�271.
Holt, S. B. and Lindesten, J. 1964. Dermatoglyphic anoma-lies 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: 112.
Komatz, Y., Kiriyama, T. and Yoshida, O. 1979. Soledermatoglyphics of patients with Klinefelter’s syndrome(47,XXY). � J. Ment. Defic. Res. 23: 85�90.
Komatz, Y., Ohshiro, K., Kiriyama, T. et al. 1981. Hallucalridge counts in patients with Klinefelter’s syndrome.� Ann. Hum. Biol. 8: 171�174.
Kumar, A. and Manou, S. J. 2003. Palmar dermatoglyphicsas diagnostic tool: Mayer-Rokintansky-Kuster-Hausersyndrome. � Indian J. Dermatol. Venereol. Leprol. 69:95�96.
Matsuyama, N. and Ito, Y. 2006. The frequency of finger-print type in parents of children with Trisomy 21 inJapan. � J. Physiol. Anthropol. 25: 15�21.
Milicic, J., Bujas Petkovic, Z. and Bozikov, J. 2003.Dermatoglyphics of digito-palmar complex in autisticdisorder: family analysis. � Croat. Med. J. 44: 469�476.
Penrose, L. S. 1968. Medical significance of fingerprints andrelated phenomena. � Brit. Med. J. 2: 321.
Petremand-Hyvarinen, R. 1978. Morphologic and dermato-glyphic aspects of Klinefelter 47,XXY syndrome. � J.Genet. Hum. 26 Suppl: 1�83.
Polat, M. H., Azak, A., Evlioglu, G. et al. 2000. The relationof bruxism and dermatoglyphics. � J. Clin. Pediatr. Dent.24: 191�194.
Polovina, S., Cvjeticanin, M., Milicic, J. et al. 2006.Dermatoglyphics and brachial plexus palsy. � Coll.Antropol. 30: 559�563.
Shiono, H., Kadowaki, J. I., Tanda, H. et al. 1977.Dermatoglyphics in Klinefelter’s syndrome. � J. Med.Genet. 14: 187�189.
Simsek, S., Taskiran, H., Karakaya, N. et al. 1998. Derma-toglyphic analyses in children with cerebral palsy.� Neurobiology 6: 373�380.
Than, M., Myat, K. A., Khadijah, S. et al. 1998. Derma-toglyphics of Down’s syndrome patients in Malays: acomparative study. � Anthrop. Anz. Jg. 56: 351�365.
Uchida, I. A., Miller, J. R. and Soltan, H. C. 1964.Dermatoglyphics associated with the XXYY chromo-some complement. � Am. J. Hum. Genet. 6: 284�291.
Weinreb, H. J. 1985. Fingerprint patterns in Alzheimer’sdisease. � Arch. Neurol. 42: 50�54.
166 F. S. Cam et al. Hereditas 145 (2008)