Clinical and DNA studies on 46, XY females with gonadal dysgenesis. A report of six cases

Understanding the process of sex determination has been aided by the molecular analysis of individuals whose karyotype does not correspond to their phenotype, 46, XX males and 46, XY females. We studied the clinical and molecular data on six 46, XY females of Indian ethnic origin. In each subject, c...

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Bibliographic Details
Published in:Journal of reproductive medicine Vol. 41; no. 4; p. 263
Main Authors: Kucheria, K, Mohapatra, I, Ammini, A C, Bhargava, V L, McElreavey, K
Format: Journal Article
Language:English
Published: United States 01.04.1996
Subjects:
Adolescent
Adult
DNA - analysis
DNA - genetics
European Continental Ancestry Group
Female
Gonadal Dysgenesis, 46,XY - diagnosis
Gonadal Dysgenesis, 46,XY - etiology
Gonadal Dysgenesis, 46,XY - genetics
Humans
India - ethnology
Karyotyping
Mutation
Phenotype
Polymerase Chain Reaction
India
ISSN:0024-7758
Online Access:Get more information
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Summary:Understanding the process of sex determination has been aided by the molecular analysis of individuals whose karyotype does not correspond to their phenotype, 46, XX males and 46, XY females. We studied the clinical and molecular data on six 46, XY females of Indian ethnic origin. In each subject, cytogenetic analysis indicated a 46, XY karyotype without mosaicism. In four of the cases DNA studies were performed on the sex-determining region, Y chromosome gene. A de novo point mutation was identified in one subject. Our data provide additional evidence for genetic heterogeneity in the etiology of 46, XY gonadal dysgenesis.
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ISSN:0024-7758