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PMID: 110671 Published · ppublish English Case Reports Journal Article

Familial XX true hermaphroditism and the H-Y antigen.

Human genetics ·Vol. 48 ·No. 1 ·1979-04-17 ·Pages 45-52

Fraccaro M, Tiepolo L, Zuffardi O, Chiumello G, Di Natale B, Gargantini L, Wolf U

Abstract

Two 46,XX sibs, one of female, one of male gender, and both with ambiguous external genitalia and ovotestis, were H-Y positive. The mother was H-Y negative. It is assumed that the underlying mutation was transmitted by the father, resulting in an autosomal dominant mode of inheritance. The common origin and the nature of the mutation leading to XX sex reversal are discussed.

MeSH Terms
Adolescent Adult Disorders of Sex Development/genetics,immunology Female Genes Genes, Dominant Genes, MHC Class II H-Y Antigen/genetics Humans Male Mutation Ovary/embryology Pedigree Testis/embryology X Chromosome
Chemicals
H-Y Antigen
Authors & Affiliations
7 authors, click to expand affiliations / ORCID
Fraccaro M
Tiepolo L
Zuffardi O
Chiumello G
Di Natale B
Gargantini L
Wolf U
References (23)
23 references, click to expand
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Article Info
Journal
Human genetics
Abbr.
Hum Genet
ISSN
0340-6717
DOI
10.1007/BF00273273
Published
1979-04-17
Pages
45-52
Language
English
Region
Germany
NLM ID
7613873
Subset
IM
External Links
PubMed source DOI: 10.1007/BF00273273 View journal details
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