Axial Triradius Research Articles

Genetic Studies in Tobishima: II. Dermatoglyphic Differentiation among the Villages

The finger and palm prints of 328 males and 369 females from Tobishima Island in Yamagata Prefecture were examined for 16 qualitative and 7 quantitative characters, attempting to reveal a regional dermatoglyphic differentation in relation to the population structure reported previously. A high degree of dermatoglyphic differentiation was found among three villages on Tobishima, especially in finger patterns, both hypothenar and thenar/I configurations, total finger ridge counts, and a-b ridge counts. Graphic profiles summarizing variation patterns in qualitative traits were strikingly different from one village to another, suggesting that the dermatoglyphic differentia-tion was apparently of random nature. Such rare variants as hypothenar whorls, hypothenar radial arches, and accessory axial triradii showed an uneven distribution among the villages. Further, a considerable deviation of the Tobishima population from the general Japanese was found in pattern frequencies, especially in missing c triradii, accessory interdigital triradii, thenar/I patterns, and simian creases. These results indicate that, as suggested by the previous report, the regional dermatoglyphic differentiation on Tobishima has been caused mainly by random genetic drift.

The dermatoglyphic and clinical features of the 9p trisomy and partial 9p monosomy syndromes.

The physical and dermatoglyphic features obtained from published reports of 128 patients with the trisomy 9p syndrome and 27 patients with the partial 9p monosomy syndrome are tabulated. This information is also provided on two new individuals with each of these chromosomal disorders. The dermal ridge patterns and palmar creases of trisomy 9p which are most helpful from a diagnostic standpoint are zygodactylous or absent palmar digital triradii, brachymesophalangy, reduced total finger ridge count, complex thenar/ID I patterns, transverse palmar ridge alignment, simian creases, distal axial triradii, and great toe and hallucal arch patterns. The characteristic features in partial 9p monosomy include dolichomesophalangy with accessory finger flexion creases, digital whorl patterns and elevated total finger ridge count, distal axial triradii, simian creases, and palmar dermal ridge dissociation.

Dermatoglyphic and cytogenetic studies in parents of children with trisomy 21.

Dermatoglyphic studies were carried out of 131 mothers and 95 fathers of children with Down syndrome and 200 controls (100 males and 100 females) using the Hopkins single score method. Twelve percent of the mothers and 2% of the fathers showed dermatoglyphic abnormalities including a distal axial triradius (t"), hypothenar ulnar loops, radial loops on digits IV and V and abnormal palmar creases, resulting in a positive Hopkins score or a score in the "overlapping range" (greater than -3). The origin of the extra chromosome could be determined in 23 of a total group of 40 families. In 22 of the former, the mother was the donor of the extra chromosome; in one it was the father, In these 23 families, a Hopkins score in the overlapping range was found in three mothers who were all under the age of 35 years at the birth of the affected child. Since cytogenetic studies cannot easily differentiate between meiotic nondisjunction and mosaicism as a basis for 21 trisomy in the progeny, it is possible that mothers with positive overlapping Hopkins scores represent undetected mosaics for a trisomic cell line. The dual approach utilizing dermatoglyphic and cytogenetic studies may aid in identifying persons with an enhanced risk for having children with Down syndrome.

Frequency of dermatoglyphic palmar patterns and main line terminations: a control study

Detailed dermatoglyphic studies of palmar formulae, i.e., mainline terminations and palmar patterns, were performed on 100 female and 100 male Australians of European origin, to provide control data. Results were tabulated to show percentage frequencies of various terminations of the palmar mainline A, B, C, and D, the position of the axial triradius t, and the percentage frequencies of palmar patterns in the hypothenar, thenar/1₁, 1₂, 1₃ and 1₄ areas. These results will be presented, showing bimanual and sexual variation. Our findings proved to be very similar to those reported by authorities in North America and the United Kingdom, although a few differences were noted.

Dermatoglyphs in carriers of a balanced 15;21 translocation.

Cytogenetic and dermatoglyphic features were studied in a large family with an inherited 15;21 translocation. Of 35 healthy members of the family, 21 carried the translocation chromosome and 14 were chromosomally normal. There were six members with Down's syndrome who had the translocation. Dermatoglyphic studies showed that carriers of this balanced translocation had the following peculiarities significantly more often than the general population. On the hands, they had ulnar loops on the fingertips, symmetrical high terminations of the A line, symmetrical ulnar loops on the hypothenar areas, distal loops in the 3rd interdigital areas, open fields in the 4th interdigital areas, axial triradii in the distal position, and single transverse palmar creases (Sydney lines). On the feet, they had small distal loops on the hallucal area and distal loops in the 4th interdigital areas. The translocation carriers also had significantly more often than non-carrier relatives symmetrical high terminations of the A line, open fields in the 4th interdigital areas, distal axial triradii, and Sydney lines. On the feet, they had small distal loops on the hallucal areas, distal loops in the 4th interdigital areas, and tibial loops on the proximal hypothenar areas. The data obtained from this study, and especially the values of the Walker and general indices, indicate that some of the dermatoglyphic stigmata of Down's syndrome are directly associated with the 15;21 translocation carrier state and can therefore be used for predicting that state.

Absent d triradius and dotting of the ridges in siblings.

Absent d triradii were found in 2 sibs of a family of African ancestry. 1 of the sibs exhibited not only bilateral absence of d triradius but also bilateral absence of axial triradii. The other sib lacked d triradius in the left palms. All 5 sibs of the sibship showed, to some degree, dotting or dissociation of the ridges. The present results support the suggestion of genetic transmission of both absent d triradius and dotting of the ridges.

A gene for hypospadias in a child with presumed tetrasomy 18p

The proband and his elder brother had intrauterine growth retardation, hypospadias, cryptorchism, a high palate, distally placed axial triradii, and a functional and maturational CNS defect that improved with age and included the inability to suck, severe swallowing difficulties, and frequent vomiting. Their hypospadias is due to an autosomal dominant gene. The proband also had a small extra metacentric chromosome presumed to be an isochromosome 18p.

Palmar dermatoglyphics of the patients with Klinefelter's syndrome (47,XXY).

The frequency of palmar patterns and triradii of the palm prints of sixty-five 47,XXY Klinefelter's syndrome patients was compared with that of normal male and female subjects. There was no significant variation in the frequency of palmar pattern elements between the Klinefelter's syndrome group and the controls, except for the axial triradius of the Klinefelter's group, which was more distally located.

Dermatoglyphic alterations associated with acute rheumatic fever in children.

The dermatoglyphic configurations of 78 children with acute rheumatic fever were compared with those of 46 first-degree relatives and 1,310 normal subjects. Of the children with acute rheumatic fever, 75% had an ulnar deviation of the axial triradius. In about 40% of this group, the ulnar deviation was associated with a concomitant distal displacement, which resulted in a significantly higher mean maximal angle atd (P less than .001) and significantly lower mean ab and td ridge counts (P less than .001) relative to normal control values. The palmar dermatoglyphics of patients with acute rheumatic fever were more closely related to the configurations of first-degree relatives than to normal controls. The dermatoglyphic profiles of six patients were nearly identical to those of their first-degree relatives, all of whom had a history of acute rheumatic fever. Presence of abnormal dermatoglyphic profiles in a large proportion of children with acute rheumatic fever supports the hypothesis that certain individuals have a genetic predisposition to this disease.

Dermatoglyphic and radiographic findings in a mother and daughter with pseudohypoparathyroidism

The dermatoglyphic features of a mother and daughter with pseudohypoparathyroidism were compared with those of 19 other reported PHP cases and with findings typical of 45,X Turner syndrome. Our observations included large patterns with a predominance of whorls, unusual accidental patterns on the third fingers, elevated total and absolute finger ridge counts, extralimital digital triradii, intermediately placed axial triradii, and a single complete transverse palmar crease. With barium-coated hand radiographs, the positions of the palmar digital triradii were compared with those of the underlying metacarpal and carpal bones. Normally, the fourth digital triradii (c) are superficial to the epiphyseal region of the proximal phalanx, near the fourth M-P joint. In our cases, the c triradii were distal to the proximal phalanx, near the fourth M-P joint. In our cases, the c triradii were distal to the M-P joint, adjacent to the diaphysis of the proximal phalanx. These findings, related to post-natal differences in growth potential of osseous structures and overlying dermal ridge tissues in this disease, may also be relevant to other syndromes with abnormal development of the hand. The need for further delineation of PHP dermatoglyphics and comparison of findings with data from Turner syndrome and normals is stressed.

Dermatoglyphic studies in rheumatic heart disease.

62 patients suffering from rheumatic heart disease were taken from Institute of Child Health, Niloufer Hospital, Hyderabad, for the present dermatoglyphic investigation. The finger, palm and toe prints were analysed to see if there was an association between rheumatic heart disease and any of the dermatoglyphic traits. The parameters which were significantly different from the controls are: (1) reduced frequency of arches on the finger tips in males and increased frequency of whorls in females; (2) increased frequency of patterns in the III interdigital area in males; (3) decreased d-t ridge count in females, and (4) higher incidence of multiple axial triradii in females.

Palmar flexion creases and dermatoglyphics among diabetic patients.

Palmar dermatoglyphics and flexion creases of 108 male and 65 female patients diagnosed as having diabetes mellitus have been analysed. The control population consists of 536 males and 234 females from the same population. Palmar flexion creases were analysed according to the method suggested by Bali and Chaube ('71). The flexion creases of diabetic patients and the control population are significantly different. The differences between main line formulae in diabetes and controls are significant among males. The differences between C-line types of patients and controls are significant among both sexes. Axial triradii are significant among female patients and controls. The patterns in the interdigital areas IV and II are significantly lower among male and female patients respectively from their controls.

SCREENING FOR AUTOSOMAL ABERRATIONS

A method of screening for autosomal aberrations is important as an indication for chromosome analysis such as that used in sex-chromatin examination for sex chromosome aberrations. In our clinic, malformed patients with mental retardation and abnormal dermatoglyphic patterns are strong suspects for autosomal aberrations. Abnormal dermatoglyphic patterns are separated into two categories: (1) Absolutely abnormal--radial loop of 1st finger, radial loop of 4th finger, radial loop of 5th finger, arch over 6 fingers, arch tibial, loop tibial, and arch fibular; (2) Borderline abnormalities--high axial triradius (t' and t"), simian crease, interdigital loop, and single crease of 5th finger. Of 416 cases showing malformation, retardation, and abnormal dermatoglyphics, 308 had autosomal aberrations, while 108 had normal karyotypes. In the group with autosomal aberrations, 279 patients (90.6%) had absolutely abnormal dermatoglyphics. In the group with normal karyotypes only 8 patients (7.4%) had absolutely normal dermatoglyphics, while most had abnormal dermatoglyphics in the borderline category. These clinical manifestations: absolutely abnormal dermatoglyphics, mental retardation, and malformations are therefore very useful in screening for autosomal aberrations.

Dermatoglyphics Study of the Shompen of Great Nicobar

The finger and palm prints of 20 male and 18 female Shompen of Great Nicobar were examined. The distribution of finger patterns and of palmar main line formulae showed significant sex differences. Main line index was higher on right than on left hands in both sexes. Axial triradius t was most frequently observed on both hands in the two sexes.

Hand dermatoglyphics in trisomy 4p.

A dermatoglyphic analysis of the hands of 16 patients with trisomy for the short arm of chromosome 4 has revealed an increased frequency of whorl patterns on fingertips, presence of axial triradii in position t' on palms and an increase of the main line index. Although of little diagnostic value these changes must be included in the constellation of major signs which characterize the 4p trisomy syndrome.

Genetics of patent ductus arteriosus

A genetic study of 119 correlative cases of patent ductus arteriosus has been performed. The isolated cases showed female predominance, but there was a three times higher risk for the sibs of male cases, suggesting a multifactorial causative mechanism. Dermatoglyphs presented an excess of arches in male, and a tendency to distal axial triradius in female. There were 15 cases belonging to polymalformative syndromes, such as mongolism, Turner, Noonan, Holt-Oram, Lewis and rubella embryopathy.

The hypothenar radial arch, a genetically determined epidermal ridge configuration.

A radial arch in the hypothenar area of the human palm is an uncommon ridge arrangement. It is associated with an ulnar triradius and no axial triradius is present. The configuration generally occurs on right hands but is sometimes found on both hands. The frequency in the few European populations studied and in one Canadian sample varies from 0.2 per cent to over 2 per cent of persons. Hypothenar radial arches have also been reported in patients with abnormal sex chromosomes but are not specific to any karyotype. Two families are described in which nearly related persons have hypothenar radial arches. They provide the first evidence that the pattern is inherited. In one family three out of six sibs have radial arches in the hypothenar area and so have two out of three children of one of them. In the other family a pair of identical twins and their mother have hypothenar radial arches. It is suggested that, from the information available, inheritance is probably due to a recessive gene.

Dermatoglyphics in Noonan's syndrome (author's transl)

Dermatoglyphics in Noonan's Syndrome A dermatoglyphic analysis has been carried out in 7 boys and 5 girls affected by Noonan's syndrome. No deviation from the general population values was found with respect to individual quantitative value, A line termination, absence of C line, a-b ridge count, hypothenar patterns, and presence of p proximal triradius on soles. Whorls were however increased on fingertips and the axial triradius t, as in Turner's syndrome, was in 21% of the cases in position t' or t".

Parathenar palmar pattern: a dermatoglyphic sign of possible clinical significance.

The frequency of a 'double proximal axial triradius' (DPAT), which results in a palmar parathenar pattern, has been reported to be increased in those with ventricular septal defect (BSD). We scored the presence of this pattern in 313 patients with congenital heart defects (including 86 with isolated VSD), 176 with cystic fibrosis (CF) or relatives of those with CF, and 333 with no known clinical disease who were unrelated to individuals with CF. The frequencies in these three groups were 1.6, 2.3, and 0.6%, respectively. None of those with isolated VSD defect had a DPAT. All five individuals in the heart defect group with a DPAT had pulmonic stenosis. Of the total of eleven individuals in our series with DPAT patterns, eight were affected only on the right hand. The frequency of DPAT in individuals with no known disease in this series was 4/406=1.0%, more than double the frequency in a control series, published previously by DAVID, 5/1,129=0.4%. If the 73 relatives of those with CF are excluded from our own 'control' group, the frequency of DPAT in this group is then 0.6%, closer to the results in DAVID's control series.

Dermatoglyphics in healthy Indian children. An analysis of finger prints, palm prints, axial triradii and "atd" angle, sole and toe prints.

The various dermatoglyphic patterns and their variations as found in finger prints and ridge count, palm prints, axial triradii and ‘atd’ angle and sole and toe prints are described. This study of 2000 apparently normal Indian children, will help in the assessment of significant changes in various congenital disorders and may also be an important clinical sign in diagnosing these disorders.