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Digital dermatoglyphic patterns of Eskimo and Amerindian populations: relationships between geographic, dermatoglyphic, genetic, and linguistic distances.

Dermatoglyphic traits have been used to assess population affinities and structure. Here, we describe the digital patterns of four Eskimo populations from Alaska: two Yupik-speaking villages from St. Lawrence Island and two Inupik groups presently residing on mainland Alaska. For a broader evolutionary perspective, these four Eskimo populations are compared to other Inuit groups, to North American Indian populations, and to Siberian aggregates. The genetic structures of 18 New and Old World populations were explored using R-matrix plots and Wright's FST values. The relationships between dermatoglyphic, blood genetic, geographic, and linguistic distances were assessed by comparing matrices through Mantel correlations and through partial and multiple correlations. Statistically significant relationships between dermatoglyphics and genetics, genetics and geography, and geography and language were revealed. In addition, significant correlations between dermatoglyphics and geography, with linguistic variation constant, were noted for females but not for males. These results attest to the usefulness of dermatoglyphics in resolving various evolutionary questions concerning normal human variation.

Alaska↗

Sole dermatoglyphics in the Forest Nentsy, Nganasans, and Chukchi: dermatoglyphic distances.

Sole dermatoglyphics of the aborigines of Northwestern Siberia, Taimir, and Kamchatka are presented in this paper. The distance coefficients based on various combinations of dermatoglyphic traits depending on their heritability were estimated. These were compared with the overall dermatoglyphic distance coefficients as well as with the genetic (dermatoglyphic) distance coefficients based on six blood groups (ABO, MNSs, P, Fy, Jk, Kp). Genetic interpretation of the distances was attempted in connection with analysis of differences or similarities between these populations.

Asian People↗

Relationship between genetic anomalies of different levels and deviations in dermatoglyphic traits. Part 2: Dermatoglyphic peculiarities of females with Turner's syndrome.

The present study is carried out to evaluate the effect of chromosomal morbidity (45x/46xx or 45x/47xxx or 45x) in the females with Turner syndrome, based on dermatoglyphic traits and indices of diversity and asymmetry. The main objectives of the present study is to find dermatoglyphic traits and fluctuating asymmetry indices which could be "marker traits" and could indicate the degree of developmental instability of the organism. The sample of Turner females (N = 57) was collected in the Genetic Institute of Sheba Hospital, Tel Aviv, Israel, by Professor Bat-Miriam Katznelson during 20 years, between 1968-1988. All patients were checked by chromosomal examination and finger and palm prints were collected with the aid of pads manufactured by Lamedco Inc. Knoxville, Tennessee, U.S.A. Interpretation of the prints was according to Cummins & Midlo (1961) and Penrose (1968) and included identification of patterns, ridge counts and the measurements of distances and angles in the palms. 79 dermatoglyphic variables for every patient: 28 continuous traits, 9 discrete traits, 11 indices of intraindividual diversity, 15 indices of directional asymmetry and 16 indices of fluctuating asymmetry were estimated. The problem of asymmetry, fluctuating and directional and of intraindividual diversity of quantitative dermatoglyphic traits is here reviewed as well as illustrated by data obtained on a sample of healthy control group of Jews from Israel.

Adolescent↗

Dermatoglyphic studies in the parents of trisomy 21 children I. Distribution of dermatoglyphic discriminants.

A sample of 312 parents of a child with complete trisomy 21 (168 mothers and 144 fathers) has been compared with 295 parents of non-mongol children (61 mothers and 134 fathers) with respect to distribution of individual dermatoglyphic discriminant scores. Selection of dermatoglyphic traits as well a weightings have been based on the discriminant function, constructed for normal controls against cytogenetically diagnosed trisomy 21 mosaics. The results indicate that the proportion of individuals with an increased chance of mosaicism is appreciably greater in a sample of both the mothers and the fathers of mongol children, as compared with the parents of non-mongol children. For D greater than + 3.00, including also the overlap range values, it is, on the average, twice as high as in the control parents, while for the D values greater than + 4.00, strongly indicative of mosaicism, it is about five times higher than in control parents. This is so in spite of the fact that all parents, who had previously been cytogenetically tested and diagnosed as mosaics, were not included in this sample. Although the meaning of these results cannot yet be completely understood, they justify the extension of the use of dermatoglyphic discriminants in studies on parental mosaicism in trisomy 21.

Age Factors↗

Relationship between genetic anomalies of different levels and deviations in dermatoglyphic traits. Part 7: Dermatoglyphic peculiarities of females with cervical and endometrial carcinoma.

This study was carried out to evaluate the effects of neoplastic diseases like carcinoma of the cervix and endometrial carcinoma, and was based on dermatoglyphic traits and their indices of intraindividual diversity (Div), fluctuating asymmetry (FIA) and directional asymmetry (DA). The results were compared with control groups of women and men, whose data have been detailed in our previous publications (Kobyliansky et al., 1999 a-d), and with analogous data of additional cancer groups available in the literature, like acute leukemia, bronchial cancer and breast cancer. The general aims of the study were as follows: (a) to obtain a dermatoglyphic characterization of discrete and quantitative traits and their Div, DA, FIA values in cancer patients, compared to healthy control groups, both female and male; (b) to test the hypothesis that in cancer patients there is an increased level of FIA as a result of an impaired developmental homeostasis; (c) to explore the possibility of using DT (dermatoglyphic traits) data of CW (women with cancer) to predict the probability of the appearance of cervical and endometrial carcinoma in apparently healthy females at a young age. The sample consisted of 94 Israeli-Jewish women of various groups, of which 54 had endometrial carcinoma and 40 had cervical carcinoma. The prints were collected in the Tel-Hashomer Hospital. The control group was a sample of 874 healthy subjects, half of them male and the other female, all from Jewish communities of European extractions (50%) as well as from Africa (50%). All controls were adults (over 18 years of age). Interpretation of prints was performed according to Cummins & Midlo (1961) and Penrose (1968) and included identification of patterns, ridge counts and the measurement of distances and angles in the palms, 79 DT for every individual were assessed. Significant differences were found for some of the studied traits between cancer patients and their healthy control groups. We encountered merely a low sexual dimorphism between the CW and the control males as compared to that between control males and females (with significant differences in 18% of the quantitative traits vs 64% in the control). The indices of diversity and asymmetry proved more suitable for discrimination, yielding the highest discrimination level between CW and control females. This finding suggested other data in the present study which points to a similarity between CW and control males.

Adult↗

Quantitative analysis of dermatoglyphics. (2) Dermatoglyphic patterns.

Using medical students as controls, we devised a method of quantitative analysis of dermatoglyphic patterns. We calculated the frequency of appearance of each of the patterns and obtained the probability of occurrence of the dermatoglyphics of each of the controls. We showed usefulness of this method by presenting some examples of congenital anomalies where this has been put to use. Furthermore, patients with congential heart disease were compared with controls by this method.

Dermatoglyphics↗

Genetical distance and dermatoglyphic characters. III. Dermatoglyphic distances within twin pairs, between left and right sides and between normals and 21-trisomics.

The dermatoglyphic (genetical) distance coefficients have been estimated within monozygotic and dizygotic twin pairs, between left and right sides of the same individual and between normal subjects and 21-trisomics. All the coefficients have been based, in turn, on frequencies of fingertip, palmar and sole pattern elements, separately and for all characters combined. Quantitative variables (pattern intensities) have also been used for independent evaluation of the C2H distance coefficient in monozygotic and dizygotic twins, and in 21-trisomics as compared with normal individuals. The values of a distance have then been considered in relation to the degree of genetical likeness between the compared items as well as to the relative contribution of each pattern combination to the overall value of a distance. Some limitations in the interpretation of the results, connected mainly with statistical procedures, are also discussed.

Chromosomes, Human, 21-22 and Y↗

Relationship between genetic anomalies of different levels and deviations in dermatoglyphic traits. Part 6: Dermatoglyphic peculiarities of males and females with cleft lip (with or without cleft palate) and cleft palate--family study.

The present study was carried out to evaluate the effect of polygenic morbidity with respect to Cleft Palate and Cleft Lip with or without Cleft Palate (CL) in males and females based on dermatoglyphic traits (DT) and indices of intraindividual diversity (Div), fluctuating (FA) and directional (DA) asymmetry. The main objectives of the present study were as follows: a) to find DT and FA indices, which could be "marker" traits and could indicate the degree of developmental instability of the organism; b) to explore the possibility of using DT, FA, Div and DA indices of CL patients and their parents and to predict the likelihood of the disease appearing in the offsprings of apparently healthy individuals. The samples were of 106 CL patients (59 males and 47 females) and 156 of their parents (67 fathers and 89 mothers), all Israeli Jews. The prints were collected in the Beilinson (Petah-Tikva) and Rambam (Haifa) and Hadassah (Mount Scopus, Jerusalem) Hospitals, or in the abodes of the CL patients. The results were compared with the control group of healthy women and men whose data are detailed in our previous publication. Interpretation of the prints were done according to the methods and included identification of patterns, ridge counts and the measurements of distances and angles in the palms, 79 DT for every individual, 28 continuous traits, 9 discrete traits, 11 indices of Div, 15 DA indices and 16 FA indices. In CL groups increased FA indices values were found and a decreased sexual dimorphism in DT of the CL and parental groups as compared to the control--this both in terms of the number of significant differences, as well as in values of the traits (e.g. smaller differences between the male and female values). The above mentioned findings were partly confirmed also by the discriminant analysis. The values of DT parents were generally similar to those of the control. The best discrimination was obtained between the CL and control groups (70.44% between CL males and control males and 83.47% between CL females and control females). Over 50% of the DT variables were found to be suitable for including into the discriminant function.

Adolescent↗

Relationship between genetic anomalies of different levels and deviations in dermatoglyphic traits. Part 4: Dermatoglyphic peculiarities of males and females with Down syndrome. Family study.

The present study was carried out in order to evaluate the effect of chromosomal morbidity (trisomy 21) in males and females with Down's Syndrome (DS) based on dermatoglyphic traits (DT) and their indices of diversity and asymmetry. The results were compared between parents and control groups of women and men whose data are detailed in our publication (Kobyliansky et al. 1999). The general aim of the study was to explore the possibility of using DT of the parents of DS patients to predict the likelihood of the disease appearing in the offspring. The samples were of DS patients (198 males and 140 females) and their parents (84 fathers and 153 mothers), all Israeli Jews. The prints were collected in the Genetic Institute of the Sheba Hospital, Ramat-Gan, Israel, and were validated by chromosomal examination. Interpretation of the prints was done according to Cummins & Midlo (1961) and Penrose (1968) and included identification of patterns, ridge counts and the measurements of distances and angles in the palm of the hands; 79 DT for every individual: 28 continuous traits, 9 discrete traits, 11 indices of intraindividual diversity (Div), 15 indices of directional asymmetry (DA) and 16 indices of fluctuating asymmetry (FA) were estimated. This study supports the hypothesis that the magnitude of FA in groups with low developmental stability (groups with chromosomal aberrations) or other birth defects, is elevated, compared with FA in healthy controls. The present study found proof of the existence of an additive genetic component in the FA of DT, while an increased FA was observed in parents of DS patients in comparison to control groups. The DT which are typical to DS patients were confirmed also in parents. The decrease in sexual dimorphism of the DT was found in DS patients and their parents in comparison with the control.

Adult↗

Characterization of dermatoglyphics in PHOX2B-confirmed congenital central hypoventilation syndrome.

OBJECTIVE: Individuals with congenital central hypoventilation syndrome have characteristic variants in the PHOX2B gene (primarily polyalanine expansion mutations). The PHOX2B gene acts as a transcriptional activator in the promotion of pan-neuronal differentiation in the autonomic nervous system during early embryologic development, with a primary role in the sympathetic noradrenergic phenotype in vertebrates. Because sympathetic innervation has been hypothesized to affect the development of dermatoglyphic pattern types, we hypothesized that individuals with PHOX2B-confirmed congenital central hypoventilation syndrome would have characteristic dermatoglyphic patterning and that the dermatoglyphic phenotype would be related to the disease-defining PHOX2B genotype. METHODS: Dermatoglyphic pattern type frequency, left/right symmetry, and genotype/phenotype correlation were assessed for 33 individuals with PHOX2B-confirmed congenital central hypoventilation syndrome and compared with published control data. RESULTS: Dermatoglyphic pattern type frequencies were altered in congenital central hypoventilation syndrome cases versus controls. In particular, there was an increase of arches in females and ulnar loops in males, with the largest differences for the left hand and for individuals with both congenital central hypoventilation syndrome and Hirschsprung disease. Dissimilarity scores between the congenital central hypoventilation syndrome and congenital central hypoventilation syndrome + Hirschsprung disease cases were not significantly different, nor were dissimilarity scores between all of the female and all of the male cases. No significant association was found between the number of polyalanine repeats in the PHOX2B genotypic category and dermatoglyphic pattern frequencies in the congenital central hypoventilation syndrome study groups. CONCLUSIONS: These results represent the first report describing specific dermatoglyphic patterning in congenital central hypoventilation syndrome and suggest a relationship between PHOX2B and the expression of dermatoglyphic pattern types. An expanded congenital central hypoventilation syndrome data set to include the full spectrum of PHOX2B mutations is necessary to further delineate the role of PHOX2B in dermatoglyphic patterning.

Adolescent↗

Dermatoglyphic peculiarities in Down's syndrome detection of mosaicism and balanced translocation carriers.

The combination of dermatoglyphic patterns and the number and intensity of traits characteristic for Down's syndrome can be statistically expressed by the "Walker" index and the "general" index. More than 96% of a Down's syndrome series and a control series could clearly be separated by the general index. Cytogenetic and dermatoglyphic features were studied in 17 patients with mosaic trisomy 21 and their parents. In the 17 cytogenetically diagnosed patients with mosaic Down's syndrome, a highly significant correlation was observed between the percentage of trisomic cells and the presence of traits characteristic for this syndrome in the dermatoglyphic patterns. The diagnostic problems and the value of dermatoglyphic examination in cases of mosaicism, where the trisomic cell line seems to have disappeared, is discussed. The results of our study also indicate an elevated incidence of a specific dermatoglyphic pattern combination with general index values similar to Down's syndrome in one parent in nearly 20% of Down's syndrome children. The possibility of hidden mosaicism in these parents of Down's syndrome children is discussed. Furthermore, the dermatoglyphic patterns in a large kindred with an inherited 15/21 translocation (21/41 carriers of the balanced translocation; 14/41 chromosomally normal; 6/41 mongoloid members) was analyzed. The data obtained from this translocation family and especially the values obtained in the general index indicate that some dermatoglyphic stigmata are directly associated with the D/21 translocation carrier state and can therefore be used for predicting this state.

Chromosomes, Human, 13-15↗

Dermatoglyphic fingerprint heterogeneity among individuals with nonsyndromic cleft lip with or without cleft palate and their unaffected relatives in China and the Philippines.

Cleft lip with or without cleft palate (CL/P) is a common birth defect (birth prevalence ranging from 1/500 to 1/2,000) with a complex etiology. Traits potentially related to CL/P, such as dermatoglyphics, may reflect the genetic and epidemiologic heterogeneity observed in CL/P. Such phenotypic heterogeneity in dermatoglyphic patterns may account for some of the variability in previously reported associations of dermatoglyphics and CL/P. To test this hypothesis, we took dermatoglyphic prints from individuals with nonsyndromic CL/P (n = 460) and their unaffected relatives (n = 254) from the Philippines and China. For both samples three raters designated the patterns as arch, ulnar loop, radial loop, whorl, or "other." Chi-square analysis and standard ANOVA were used to investigate heterogeneity between Filipino and Chinese study subjects. The significant associations between particular pattern types and CL/P were not the same in both populations, demonstrating population-specific association of CL/P and dermatoglyphic pattern types. The ANOVA of pattern type included both CL/P cases and their relatives, with affection status, sex, and population group as variables. For each pattern type except arches, population was significant (p < 0.0001); for radial loops, affection status was additionally significant (p < 0.0001). When only CL/P cases were considered, population was again significant for the ulnar loop (p < 0.0001), whorl (p < 0.0001), and "other" (p = 0.0002) patterns. The ANOVAs demonstrate between-population heterogeneity in dermatoglyphic pattern types. These results support our hypothesis that population-specific associations and population heterogeneity in dermatoglyphic patterns exist for CL/P cases and their relatives.

Analysis of Variance↗

Clinical aspects of dermatoglyphics.

As demonstrated above, considerable progress has been made in the understanding of the associations between dermatoglyphics and various medical disorders, as a result of which dermatoglyphic analysis has been established as a useful diagnostic and research tool in medicine, providing important insights into the inheritance and embryologic development of many studied clinical disorders. Many unanswered questions and misconceptions still remain, though. Further well-designed investigations, avoiding the pitfalls of many earlier studies, will be needed to reevaluate some of the existing claims and to determine the real value of dermatoglyphics in medicine. The benefits of a dermatoglyphic examination in individual patients in clinical genetic practice are clear; a more widespread application of this tool by clinical geneticists and pediatricians should be encouraged. Embryologic and experimental dermatoglyphic studies clearly hold a considerable potential for a better understanding of the factors influencing the development of the epidermal ridge patterns. Utilized together with newly developed methods and insights gained in recent studies of other aspects of dermatoglyphics, they should significantly advance the studies of the relationship between dermatoglyphic variation and medical disorders.

Abnormalities, Multiple↗

The dermatoglyphics of the Elema people from the Gulf District of Papua New Guinea.

The present report deals with the digital and palmar dermatoglyphics of the Elema peoples from the Gulf District of Papua New Guinea. The samples involved 91 males and 134 females from the areas of Iokea, Sepoe and Karama. The Elema dermatoglyphics, compared to those of other peoples in New Guinea, were found to have a high pattern intensity index and frequency of whorls, and the highest frequency of ulnar type C line, complete simian creases and patterns in the IV interdigital areas of the palms. On the other hand, their 11/7 ratio of the D line, the main line index, and the frequencies of patterns in the hypothenar, thenar/I and II interdigital areas were lower than most other groups on the island; they also have the lowest R/U ratio. All dermatoglyphic features considered, the frequencies in the Elema group were for the most part found to be near the extremes of the range of the dermatoglyphic frequency distributions in New Guinea populations. The dermatoglyphic distributions of New Guinea as a whole are discussed in terms of those of the other Australian populations with comments on the dermatoglyphic comparisons between the Australasians and the other major human groups, Amerindians, Orientals, Asian Indian, Caucasians and Negroes.

Asian People↗