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Dermatoglyphic peculiarities in families with X-linked mental retardation and fragile site Xq27: a collaborative study


Rodewald, A; Froster-Iskenius, U; Kab, E; Langenbeck, U; Schinzel, Albert; Schmidt, A; Schwinger, E; Steinbach, P; Veenema, H; Wegner, R -D; Wirtz, A; Zankl, H; Zankl, M (1986). Dermatoglyphic peculiarities in families with X-linked mental retardation and fragile site Xq27: a collaborative study. Clinical Genetics, 30(1):1-13.

Abstract

The dermatoglyphic patterns of fingertips, palms and soles of 75 male patients with X-linked mental retardation and fra-Xq27 and of 28 obligate female heterozygotes were analyzed and compared with the data from 200 S and 200 control individuals. The results show that there is a strong association between the fra-X-syndrome and dermatoglyphic peculiarities observed in male patients and also in female heterozygotes. The characteristic dermatoglyphic features of the fra-X-syndrome are: increased frequencies of radial loops, whorls and arches on the fingertips, a pronounced transversal course of palmar ridges, lower a-b RC, absence of c-triradii on the palms, abnormal palmar and plantar creases, dysplasia of the papillary ridges and low frequencies of true patterns on the soles. Some of these patterns were found in the female carriers of fra-Xq27 also. The combination of palmar and plantar patterns, expressed by a “log. score-Index”, provides a high degree of discrimination between the male patients with fra-X-syndrome and the control group. A preliminary log. score-Index was developed also for the female heterozygotes.

A “phantom picture” of the dermatoglyphic stigmata is constructed. We suggest that dermatoglyphic examination of the members of families suspected for fra-Xq27-syndrome can be useful for predicting this state and for diagnosing male hemizygotes and carrier females.

Abstract

The dermatoglyphic patterns of fingertips, palms and soles of 75 male patients with X-linked mental retardation and fra-Xq27 and of 28 obligate female heterozygotes were analyzed and compared with the data from 200 S and 200 control individuals. The results show that there is a strong association between the fra-X-syndrome and dermatoglyphic peculiarities observed in male patients and also in female heterozygotes. The characteristic dermatoglyphic features of the fra-X-syndrome are: increased frequencies of radial loops, whorls and arches on the fingertips, a pronounced transversal course of palmar ridges, lower a-b RC, absence of c-triradii on the palms, abnormal palmar and plantar creases, dysplasia of the papillary ridges and low frequencies of true patterns on the soles. Some of these patterns were found in the female carriers of fra-Xq27 also. The combination of palmar and plantar patterns, expressed by a “log. score-Index”, provides a high degree of discrimination between the male patients with fra-X-syndrome and the control group. A preliminary log. score-Index was developed also for the female heterozygotes.

A “phantom picture” of the dermatoglyphic stigmata is constructed. We suggest that dermatoglyphic examination of the members of families suspected for fra-Xq27-syndrome can be useful for predicting this state and for diagnosing male hemizygotes and carrier females.

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Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > Institute of Medical Genetics
Dewey Decimal Classification:570 Life sciences; biology
610 Medicine & health
Scopus Subject Areas:Life Sciences > Genetics
Health Sciences > Genetics (clinical)
Uncontrolled Keywords:Genetics (clinical), Genetics, Clinical diagnosis, dermatoglyphics, female heterozygotes, fragile X syndrome
Language:English
Date:July 1986
Deposited On:20 Jan 2023 12:56
Last Modified:28 Apr 2024 01:45
Publisher:Wiley-Blackwell Publishing, Inc.
ISSN:0009-9163
OA Status:Closed
Publisher DOI:https://doi.org/10.1111/j.1399-0004.1986.tb00563.x
Related URLs:https://api.semanticscholar.org/CorpusID:8507315 (Organisation)
PubMed ID:3757292
Other Identification Number:Corpus ID: 8507315