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

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.

journal_name

Am J Hum Genet

journal_title

American journal of human genetics

authors

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

subject

Has Abstract

pub_date

1988-07-01 00:00:00

pages

4-13

issue

1

eissn

0002-9297

issn

1537-6605

journal_volume

43

pub_type

杂志文章

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