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PubMed1977

Estimation of the variance components for dermal ridge count.

Refinements of the scoring algorithm to estimate variance components from pedigree data are developed. Subsequent to these modifications, heritability estimates were readily obtained from data for over 50 traits, including total finger ridge count reported here. A significant contribution to the total variance of ridge count could be attributed to the effects of dominance, a finding not previously reported for this dermatoglyphic trait.

Analysis of Variance↗
PubMed1978

Absence of the d triradius.

Ten cases of absence of the d triradius are reported from a heterogeneous collection of dermatoglyphs from 3610 subjects. There was one case in 1000 normal' controls. There were three cases in a group of 800 subjects with congenital heart disease. There were two cases with the 49, XXXXY constitution, a previously noted association. A pair of probably monozygous twins were discordant for absence of the d triradius. The condition was left-sided in six cases, right-sided in one case, and affected both sides in three cases.

Adult↗
PubMed1978

Search for heterozygosis in quantitative characters.

A method is described of searching for heterozygotes in a quantitative character, based on the idea that heterozygotes have more variable children than homozygotes. The variability in a set of sibs is therefore partitioned into components from the mother and father, using a least squares technique; a large component indicates a probably heterozygous parent. The method is tried out on dermatoglyphic data.

Dermatoglyphics↗
PubMed1987

Maximum likelihood estimation of components of variance and correlations in the analysis of family data.

A simple iterative method is developed for computing the maximum likelihood estimates of the components of variance and thereby the intraclass and interclass correlations, under multivariate normal assumptions involving two classes. The method works efficiently for both balanced and unbalanced data and can be readily extended to situations involving three or more classes. It is particularly suitable for application to studies of quantitative variables in genetics and is illustrated by using some dermatoglyphic data.

Analysis of Variance↗
PubMed1979

Fingerprints in congenital rubella following maternal gamma globulin.

The fingertip skin ridge patterns of ten children with the congenital rubella syndrome whose mothers had received gamma globulin following exposure to german measles during pregnancy were compared with those of 29 patients whose mothers had not received gamma globulin and with those of 162 control children. Statistical evaluation of the pattern profiles by the Mann-Whitney U-test showed that the dermatoglyphics of the two groups of patients differed significantly from each other. Each group also differed from the control children: there was a significant (p less than 0.001) increase in whorls in patients whose mothers had not had gamma globulin, but an increase (p = 0.001) in ulnar loops in those whose mothers had received gamma globulin.

Dermatoglyphics↗
PubMed1980

The Aarskog syndrome.

The Aarskog syndrome is characterized by short stature, peculiar facies, shawl scrotum, cryptorchism, broad, short hands and hyperextensibility of the proximal interphalangeal joints. A boy with typical features of the Aarskog syndrome is presented. The proband's mother, sister and grandmother were short and strongly resembled him. Palmar dermatoglyphics showed the presence of whorls in the interdigital areas of the affected mother and son and the absence of this pattern on the palms of the sister.

Abnormalities, Multiple↗
PubMed1973

Discordance for childhood coeliac disease in monozygotic twins.

Discordance for childhood coeliac disease in monozygotic twin boys is reported. The diagnosis of coeliac disease in the second-born twin was established by demonstration of a flat small intestinal mucosa on biopsy and a clinical response to a gluten-free diet. The first-born twin had a normal small intestinal mucosa. Phenotypic, genotypic, and dermatoglyphic observations as well as gross observation of the placenta and membranes provided strong evidence that these twin boys were monozygotic.

Blood Group Antigens↗
PubMed1975

Deletion of the short arm of chromosome No. 10.

A newborn male infant, whose karyotype was 46,XY,del(10)(p13) is presented. The clinical features included cleft lip and palate, preauricular pits, low set malpositioned auricles, antimongoloid slant of the eyes, microcephaly, micrognathia, congenital heart disease, hypertrophic pyloric stenosis, cryptorchidism, and abnormal dermatoglyphics. The child died at the age of 3 months in overwhelming urinary infection with septicemic complications. It is suggested that the features described here may represent a new, clinically recognizable chromosomal syndrome.

Abnormalities, Multiple↗
PubMed1975

Development of dermal ridges in the fetus.

This paper describes a new technique to inspect dermal ridges on the dermal surface instead of the epidermal surface. The dermal surface was exposed by chemical treatment and stained with toluidine blue. Dermal ridges are observable by the metachromatic effect of the reagent, which might suggest a close relationship between morphological characteristics and quantitative variations of biochemical components in the connective tissue. Dermatoglyphic features were recognized in fetuses from the 14th gestational week. Morphogenesis of dermal components--that is, grooves, primary and secondary dermal ridges, furrows, papillae, and sweat ducts--was examined at various gestational stages. The general law in the developmental sequence of the ridges in different volar areas was also confirmed.

Dermatoglyphics↗
PubMed1976

Camptodactyly, with muscular hypoplasia, skeletal dysplasia, and abnormal palmar creases: Tel Hashomer camptodactyly syndrome.

A syndrome characterized by camptodactyly, distinct facial features, multiple musculoskeletal defects, and unique dermatoglyphic changes is described in two sisters born of consanguineous parents. In 1972 this same constellation of findings was first reported in two sibs from a different ethnic origin. This heritable disorder of connective tissue termed the Tel Hashomer camptodactyly syndrome is thought to be transmitted as an autosomal recessive trait. The basic defect is unknown.

Adult↗
PubMed1978

Clinical experience with trisomies 18 and 13.

The clinical, cytogenetic, dermatoglyphic, and postmortem observations of the 29 cases of trisomy 18 and 19 cases of trisomy 13 seen in the Department of Medical Genetics from 1963-76 are summarised. Chromosomes were studied in all and 30 were banded. One patient had tertiary trisomy 18 and 8 had translocations of chromosome 13. The features of these patients are described and the syndromes compared with each other and summaries found in the literature.

Chromosome Aberrations↗
PubMed1978

Trisomy 8 syndrome.

Clinical and dermatoglyphic data on a male patient with complete trisomy 8 are reported and compared with those of other known cases of trisomy 8. The more discriminating findings for this condition are skeletal anomalies, restricted articular function, and speech problems.

Adult↗
PubMed1979

Partial monosomy 7 with interstitial deletions in two infants with differing congenital abnormalities.

Two cases of interstitial deletion of chromosome 7 are presented, one involving the short arm and the other the long arm. The cytogenetic, dermatoglyphic, and clinical findings are compared with previously reported cases of chromosome 7 deletion. The patient with a short arm deletion differs clinically from the previously reported cases but, in common with a least one previous case, has a low total finger ridge count. His interstitial deletion involving the 7p13 leads to 7p21 region also differs from 7p deletions reported in earlier cases. The patient with a long arm deletion has an interstitial loss of the region between 7q11 and 7q21, corresponding to one of three groups of 7q deletion that have been recognised. The phenotypic changes in this group are less well defined than in the other two and the patient presented here differs clinically from the previously reported cases, apart from one phenotypically normal mosaic case, in lacking morphological abnormalities. He shares with one previous case both epilepsy and a high intensity of dermal ridge patterns.

Abnormalities, Multiple↗
PubMed1983

The X linked recessive form of XY gonadal dysgenesis with a high incidence of gonadal germ cell tumours: clinical and genetic studies.

Five phenotypic females in one family had the genotype 46,XY and all had gonadal germ cell tumours. Studies of the family pedigree suggest that this form of XY gonadal dysgenesis is inherited in an X linked recessive manner. G banding of elongated metaphase chromosomes from two subjects with XY gonadal dysgenesis and a female carrier showed no aberrations of the X chromosome. The titres of H-Y antigen in three girls with XY gonadal dysgenesis were in the male control range. Thus it appears that, in the X linked form, XY gonadal dysgenesis may be caused by a point deletion or mutation of a gene on the X chromosome, which controls the gonad specific receptor for the H-Y antigen. Studies of Xg blood groups were uninformative about linkage of Xg with the X borne gene causing the XY gonadal dysgenesis. Dermatoglyphic studies in the girls with XY gonadal dysgenesis and female carriers revealed high a-b palmar ridge counts and a tendency for the A mainline to terminate in the thenar area. Both of these features have been described in patients with Turner's syndrome.

Adolescent↗
PubMed1980

Observations in a case of an X/Y translocation, t(X;Y)(p22;q11), in a mother and son.

A t(X;Y)(p223;q11) was studied in a mother and son who share features of Turner's syndrome (short stature, mild brachymesomelia, unusual dermatoglyphics) as well as mental deficiency. In the majority of the mother's cells the extra chromosome is late replicating. Ten previous cases are summarized, and the significance of Xp deletions is discussed.

Adult↗