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PubMed1975

Genetic parameters of dermal patterns of ridge counts.

Dermatoglyphic traits including ridge counts and pattern type counts on fingers were studied in 711 families representing six racial groups in Hawaii. Heritability tesimates were derived from regressions of offspring on father, mother and mid-parent values as well as from full-sib correlations. These estimates varied from 0.23 for radial loops to 0.80 for total ridge count. The heritability estimates were lower for ridge counts of single hands or single digits.

Dermatoglyphics↗
PubMed1977

Genetics of asymmetry in dermatologlyphic traits.

Differences between the right and left hand in ridge counts and pattern type counts were analyzed using data obtained from 711 families consisting of all parents and 2,466 children. Heritability estimates for each trait were derived from regressions of offspring on either parent or average value of the two parents, and from full-sib correlations. These estimates varied from 0.09 for bimanual difference in the number of arches to 0.24 in the number of ulnar triradii. The low expected value of heritability for bimanual difference in dermatoglyphic traits was demonstrated.

Adult↗
PubMed1980

Mohr-Wriedt (A2) brachydactyly: analysis of a large Brazilian kindred.

A large Brazilian kindred of German origin with 117 individuals with the A2 (Mohr-Wriedt) bradydactyly is presented. Some drawings based on radiographs and revealing the high phenotypic spectrum of the malformation are presented. Our corrected data suggest the presence of a segregation distortion in favor of the affected among the daughters of affected mothers (45:25; x12 = 5.71). This apparent anomalous segregation is not significant in the other comparisons made, although the p values corresponding to the x12 for two of them (78:56 and 109:83) are near 5%. Other 'similar' (although possibly different on the genetic aspect) A2 cases in the literature do not present any evidence of anomalous segregation. The dermatoglyphic disturbances verified in the affected index fingers seem to be mere allophenes of the basic dysmorphogenetic process which leads to the (autophenic) bone malformations. There is no birth order effect on the affected. Fertility seems to be higher among them than among their normal sibs.

Brazil↗
PubMed1980

Variations on dermal ridges in nine population groups of Maharashtra, India. I. Intra- and interpopulation diversity.

From rolled fingerprints of 646 males belonging to nine endogamous groups of Maharashtra, India, the intra- and interpopulation variability is studied by considering three traits: total finger ridge count (TFRC), absolute total finger ridge count (ATFRC) and finger pattern intensity index (FPII). Complete distributions are reported for the three major clusters: five caste Hindus, three tribes, and the Parsees. Dermatoglyphic distances computed by Mahalanobis' D2 are compared with genetic distances.

Dermatoglyphics↗
PubMedDate not supplied

Within-pair differences in a-b ridge count asymmetry in monozygotic twins: evidence for a placental proximity effect.

Asymmetry of a-b ridge count, a dermatoglyphic trait in the second interdigital (ID II) palmar area was studied in 314 identical (MZ) twin-pairs of known placental type. Statistically significant differences were observed for the variability of a-b ridge count with respect to placentation. Monochorionic MZ pairs displayed more within-pair variability than dichorionic MZ twins. Within dichorionic pairs, greater variability was observed in MZ twins when pairs with fused placentas were compared with those with separate placentas. A similar pattern of greater variability in dichorionic fused versus dichorionic separate placentas was also found in 121 same sex dizygotic twin-pairs. The pattern of within-pair differences was consistent with a placental proximity effect like that known for the variability in birth weight in twins.

Dermatoglyphics↗
PubMed1997

Co-existence of leukoderma with features of Dowling-Degos disease: reticulate acropigmentation of Kitamura spectrum in five unrelated patients.

BACKGROUND: The spectrum of Dowling-Degos disease-reticulate acropigmentation of Kitamura (DDD-RAK) is a group of rare autosomal dominant disorders that have in common a unique histological picture of hyperpigmented digitate epidermal 'downgrowths'. Patients with the DDD-RAK spectrum may show hyperpigmented macules and papules, facial pits, breaks in dermatoglyphics and epidermoid cysts. OBSERVATIONS: We examined 5 unrelated patients, 3 females and 2 males (age range 22-35 years), who presented with clinical and histological features of the DDD-RAK spectrum. In addition, the patients presented with hypo- or depigmented macules and papules. Histopathology of the lesions revealed features that were identical to DDD-RAK; there were, however, diminution or absence of pigmentation. Family histories for pigmented lesions and leukoderma were positive in all patients and consistent with autosomal dominant modes of inheritance. CONCLUSION: These 5 cases, together with isolated reports in the literature of achromic lesions with histological features of DDD-RAK, point to the hypothesis that achromic macules and papules may be a feature of the DDD-RAK spectrum.

Acrodermatitis↗
PubMed1992

Tripe palms: a significant cutaneous sign of internal malignancy.

Tripe palms is a paraneoplastic keratotic skin sign of great predictive value. It is characterized clinically by a curious rugose thickening of the palms with an accentuation of the normal dermatoglyphic ridges and sulci. Histological examination reveals an undulant epidermis with hyperkeratosis, acanthosis and papillomatosis. More than 80 cases have been reported in the literature; 90% of them were associated with an internal malignancy, mostly a carcinoma of the lung or stomach. We herein report a 66-year-old Chinese man with adenocarcinoma of the lung who presented typical tripe palms. Recognition of this distinctive pattern should prompt a meticulous search for an underlying malignancy, particularly lung or gastric carcinoma.

Adenocarcinoma↗
PubMed1987

Genetic study of retinitis pigmentosa in China.

A total of 190 patients (379 eyes), from 169 families, with retinitis pigmentosa were studied in four genetic aspects in China. A large percentage (58.9%) of affected patients appear to be sporadic cases with no family history of disease. In dermatoglyphic analysis, comparing with the controls, the increment of eight or more whorls, the increase of the number of simian and the value of atd angle in 110 patients with retinitis pigmentosa were statistically significant. In addition, the incidence of G6PD deficiency in retinitis pigmentosa (7.89%) is higher than that (3.5%) of a nonaffected population in the same area. However, there is no significant difference of ABO blood typing between 176 patients with retinitis pigmentosa and the normal population of China.

ABO Blood-Group System↗
PubMed1996

Prenatal growth markers in schizophrenia: a monozygotic co-twin control study.

OBJECTIVE: This co-twin study investigated monozygotic twins who were discordant for schizophrenia for evidence of prenatal growth differences between the affected and well co-twins. METHOD: Four dermatoglyphic markers of prenatal growth were obtained by established procedures from 26 monozygotic twin pairs discordant for schizophrenia, 13 monozygotic twin pairs concordant for schizophrenia, and several normal monozygotic twin samples. RESULTS: The a-b ridge count differences between the affected and well co-twins were greater than those found for concordant and normal monozygotic pairs. In comparison with their well co-twins, the affected twins, in discordant pairs, had developed fewer epidermal ridges in the a-b interdigital area of their right palms. In contrast, no significant differences were found between the affected twins and their well co-twins on markers associated with fetal development before 13 or after 15 weeks estimated gestational age. CONCLUSIONS: Because the a-b ridges are known to complete development between 13 and 15 weeks estimated gestational age, the results provide physical evidence suggesting that the schizophrenia-affected monozygotic twins alone experienced a time-specific and time-limited dysgenesis during this time. Commonalities in the ontogeny of epidermal and neurological structures are discussed.

Dermatoglyphics↗
PubMed1988

Trisomy 8 mosaicism syndrome. Two cases demonstrating variability in phenotype.

The paper presents clinical manifestations and results of cytogenetic examination of two patients with trisomy 8 mosaicism syndrome. The findings confirm the extreme phenotype variability of this syndrome. Both the first patient, a mentally retarded child with multiple dysmorphic changes, and the second, a 31-year-old woman with normal IQ and hypogammaglobulinemia as a predominant sign, revealed osteoarticular anomalies. Dermatoglyphic studies in both patients were typical for trisomy 8, and correlated with deep skin furrows. The chromosomal analysis was based on two types of lymphocyte cultures: 3-day and 2-day. A decreased percentage of trisomic cells in 3-day cultures in comparison to 2-day cultures may suggest the influence of environmental factors on spontaneous elimination of trisomic cells in vitro.

Abnormalities, Multiple↗
PubMed1998

Predictive value of human footprints in a forensic context.

Previous work from the United States has shown close correlation between an individual's size and weight and predetermined measurements taken from his or her footprints. This study investigated the situation in a group of United Kingdom subjects, for which there is at present little data. Walking and standing footprints, fleshed foot measurements and stature were obtained from 105 adult volunteers from the staff and students of the United Medical and Dental Schools of Guy's and St Thomas' Hospitals, London. The footprints were measured using predetermined landmarks and the results analysed to investigate the significance of the parameters in a forensic context. Inter-observer and intra-observer errors were within acceptable limits. Regression equations were calculated for foot length from various parameters measured on a footprint. Topinard's finding that foot length represents between 14.9%-18.1% of stature in a given individual was confirmed. Footprint length showed a normal distribution in both sexes but male footprint length was greater than female footprint length for any given height. This study provides a quantitative method that could be used both with partial footprints and in the absence of dermatoglyphics to assist in the identification of an individual in a forensic context.

Adult↗
PubMed2003

Directional and fluctuating asymmetry in finger and a-b ridge counts in psychosis: a case-control study.

BACKGROUND: Several studies have reported alterations in finger and a-b ridge counts, and their derived measures of asymmetry, in schizophrenia compared to controls. Because ridges are fully formed by the end of the second trimester, they may provide clues to disturbed early development. The aim of this study was to assess these measures in a sample of patients with psychosis and normal controls. METHODS: Individuals with psychosis (n = 240), and normal controls (n = 228) were drawn from a catchment-area case-control study. Differences in finger and a-b ridge count and Fluctuating Asymmetry were assessed in three group comparisons (non-affective psychosis versus controls; affective psychosis versus controls; non-affective psychosis versus affective psychosis). The analyses were performed separately for males and females. RESULTS: There were no significant group differences for finger nor a-b ridge counts. While there were no group difference for Directional Asymmetry, for Fluctuating Asymmetry measures men with non-affective psychosis had significantly higher fluctuating asymmetry of the index finger ridge count (a) when compared to controls (FA-correlation score, p = 0.02), and (b) when compared to affective psychosis (adjusted FA-difference score, p = 0.04). CONCLUSION: Overall, measures of finger and a-b ridge counts, and their derived measures of directional and fluctuating asymmetry were not prominent features of psychosis in this sample. While directional asymmetry in cerebral morphology is reduced in schizophrenia, this is not reflected in dermatoglyphic variables.

Affective Disorders, Psychotic↗
PubMed2004

Patterns of ethnic, linguistic, and geographic heterogeneity of palmar interdigital ridge counts in the Indian subcontinent.

Published data on palmar interdigital ridge counts (a-b, b-c, and c-d) among 57 populations from the Indian subcontinent were analyzed with reference to ethnic, socioeconomic, linguistic, and geographic affiliations of the studied populations. The spatial autocorrelation analysis suggests significant correlation between dermatoglyphic and geographic distances. The congruence with the ethnic semblance of the groups is also apparent in the data, and, in fact, the multiresponse permutation procedure did suggest highly significant within-group homogeneity, confirming the biological validity of the social and ethnic criteria used in the analysis. The plots of populations on the first two principal components, accounting for 92% of the total variance, complement and support the results based on the other analyses, which show certain ethnic and geographic patterns. These findings can serve as baseline information for future studies on population variation in India, particularly studies based on molecular genetic markers, a trend that has already gained momentum.

Dermatoglyphics↗
PubMed2001

Neurodevelopmental risk factors in schizophrenia.

The authors review environmental and neurodevelopmental risk factors for schizophrenic disorders, with emphasis on minor physical anomalies, particularly craniofacial anomalies and dermatoglyphic variations. The high prevalence of these anomalies among schizophrenic subjects supports the neurodevelopmental theory of the etiology of schizophrenia, since they suggest either genetically or epigenetically controlled faulty embryonic development of structures of ectodermal origin like brain and skin. This may disturb neurodevelopment that in turn may cause these subjects to be at increased risk for the development of schizophrenia and related disorders. The precise confirmation of this theory, at least in some cases, will provide further understanding of these illnesses, allowing easy and inexpensive identification of subjects at risk and providing guidelines for the development of new pharmacological interventions for early treatment and even for primary prevention of the illness.

Brain Diseases↗
PubMed2006

The Pittsburgh Oral-Facial Cleft study: expanding the cleft phenotype. Background and justification.

The Pittsburgh Oral-Facial Cleft study was begun in 1993 with the primary goal of identifying genes involved in nonsyndromic orofacial clefts in a variety of populations worldwide. Based on the results from a number of pilot studies and preliminary genetic analyses, a new research focus was added to the Pittsburgh Oral-Facial Cleft study in 1999: to elucidate the role that associated phenotypic features play in the familial transmission patterns of orofacial clefts in order to expand the definition of the nonsyndromic cleft phenotype. The purpose of this paper is to provide a comprehensive review of phenotypic features associated with nonsyndromic orofacial clefts. These features include fluctuating and directional asymmetry, non-right-handedness, dermatoglyphic patterns, craniofacial morphology, orbicularis oris muscle defects, dental anomalies, structural brain and vertebral anomalies, minor physical anomalies, and velopharyngeal incompetence.

Brain↗
PubMed2006

The frequency of fingerprint type in parents of children with Trisomy 21 in Japan.

Analysis of the frequency data of each fingerprint type (arch, ulnar loop, radial loop, and whorl) of the parents of children with Trisomy 21 (Fathers: 71; Mothers: 128) born between 1965 and 1970 obtained from the Tokyo Medical and Dental University Hospital was carried out. Japanese controls were taken from dermatoglyphics data in Japan. We conducted the Friedman test on each type of fingerprint between Japanese controls and parents of Trisomy 21 children. Results from a statistical analysis based on the above data showed significant differences, more arches (p < 0.0001) and fewer whorls (p < 0.05) in mothers of children with Trisomy 21. Among fathers of Trisomy 21 children, a significant difference was found in there being fewer whorls (p < 0.05) and ulnar loops (p = 0.06). Considering the mothers' fingerprints, we suspected that females with a higher frequency of arches and a lower frequency of whorls had a stronger possibility of bearing Trisomy 21 babies. On the other hand, in fathers of Trisomy 21 children, we considered that there would be a possibility of significant differences if cases in the sample were increased.

Adult↗
PubMed1979

Inherited congenital bilateral atresia of the external auditory canal, congenital bilateral vertical talus and increased interocular distance.

Six out of twenty descendants of a reportedly affected grandfather have congenital bilateral symmetrical and isolated subtotal atresia of the external auditory canal. Four of the six affected descendants have bilateral foot anomalies--two affected cousins having congenital vertical talus. All of the three affected boys in the third generation have increased interocular distance. Short fifth fingers, bilateral single transverse palmar creases, pyloric stenosis and congenital exotropia were found infrequently and are considered coincidental features. Apart from the atresia, oto-rhinolaryngologic examination, mental function, dermatoglyphics, IgA, kidney function and heart function of the affected descendants were all normal. The karyotype of four affected descendants examined was normal. An autosomal dominant inheritance with variable expressivity is suggested.

Abnormalities, Multiple↗
PubMed1976

Cri du chat syndrome and translocation t(5p--;18p+).

Two new cases of "cri du chat" syndrome are reported in sisters aged 2 years and one month, respectively. These cases allowed us to detect a translocation t(5p--;18p+) in the mother and to study the familial segregation of this structural chromosome anomaly. At the same time, results from the dermatoglyphic analysis of the propositi as well as those of the carriers of the translocation are also reported.

Child, Preschool↗