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PMID: 3163890 Published · ppublish English Journal Article Research Support, U.S. Gov't, P.H.S.

XX true hermaphroditism in southern African blacks: an enigma of primary sexual differentiation.

American journal of human genetics ·Vol. 43 ·No. 1 ·1988-07-00 ·Pages 4-13

Ramsay M, Bernstein R, Zwane E, Page DC, Jenkins T

Abstract

A high incidence of 46,XX true hermaphroditism exists among southern African blacks. The gonadal distribution and clinical presentation of 38 patients are described. The aim of our study on 11 families with histologically proven XX true hermaphroditism was to determine whether a common genetic or environmental etiology could be identified. Pedigree analysis excluded the presence of a simple inheritance pattern, and no constant environmental factors could be implicated. Hybridization studies with Y chromosome--specific probes (pDP132, pDP61, pDP105, pDP31, pDP97, and pY431-HinfA) excluded the presence of a large portion of Yp in these patients. It is possible that smaller portions of the Y chromosome or one or more X-linked or autosomal mutations, either interacting and/or with incomplete penetrance, are present.

MeSH Terms
Blacks DNA/genetics Disorders of Sex Development/genetics Female Genetic Markers Humans Male Nucleic Acid Hybridization Pedigree South Africa X Chromosome Y Chromosome
Chemicals
Genetic Markers DNA
Authors & Affiliations
5 authors, click to expand affiliations / ORCID
Ramsay M
Department of Human Genetics, School of Pathology, South African Institute for Medical Research, Johannesburg.
Bernstein R
Zwane E
Page D C
Jenkins T
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Article Info
Journal
American journal of human genetics
Abbr.
Am J Hum Genet
ISSN
0002-9297
Published
1988-07-00
Pages
4-13
Language
English
Region
United States
NLM ID
0370475
PMCID
PMC1715282
Subset
IM
External Links
PubMed source PMC Full Text View journal details
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