Hum Genet. 1979 Apr 17;48(1):45-52.

Familial XX true hermaphroditism and the H-Y antigen.

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.

PMID:: 110671; [PubMed - indexed for MEDLINE]

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H-Y antigen expression in a case of XX true hermaphroditism. [Hum Genet. 1980]
H-Y antigen expression in a case of XX true hermaphroditism.
Moreira-Filho CA, Otto PG, Mustacchi Z, Frota-Pessoa O, Otto PA. Hum Genet. 1980; 55(3):309-14.
Recessive male-determining genes. [Cell. 1978]
Recessive male-determining genes.
Wachtel SS, Basrur P, Koo GC. Cell. 1978 Sep; 15(1):279-81.
Recessive sex-determining genes in human XX male syndrome. [Cell. 1978]
Recessive sex-determining genes in human XX male syndrome.
de la Chapelle A, Koo GC, Wachtel SS. Cell. 1978 Nov; 15(3):837-42.
Review An autosomal or X linked mutation results in true hermaphrodites and 46,XX males in the same family. [J Med Genet. 1998]
Review An autosomal or X linked mutation results in true hermaphrodites and 46,XX males in the same family.
Slaney SF, Chalmers IJ, Affara NA, Chitty LS. J Med Genet. 1998 Jan; 35(1):17-22.
Review Sry-negative XX sex reversal in a family of Norwegian Elkhounds. [J Vet Intern Med. 1999]
Review Sry-negative XX sex reversal in a family of Norwegian Elkhounds.
Melniczek JR, Dambach D, Prociuk U, Jezyk PF, Henthorn PS, Patterson DF, Giger U. J Vet Intern Med. 1999 Nov-Dec; 13(6):564-9.

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Familial XX true hermaphroditism and the H-Y antigen.

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