SRY-negative true hermaphrodites and an XX male in two generations of the same family.
Hum Genet
; 97(5): 596-8, 1996 May.
Article
em En
| MEDLINE
| ID: mdl-8655137
ABSTRACT
Two 46,XX true hermaphrodites and one XX male without genital ambiguities are reported. They coexist in two generations of the same pedigree, with paternal transmission and in the absence of SRY (sex-determining region, Y chromosome). These familial cases provide evidence to support the hypothesis that these disorders are alternative manifestations of the same genetic defect, probably an autosomal dominant mutation (with incomplete penetrance) or an X-linked mutation (limited by the presence of the Y chromosome).
Buscar no Google
Base de dados:
MEDLINE
Assunto principal:
Transtornos do Desenvolvimento Sexual
/
Fatores de Transcrição
/
Cromossomo X
/
Proteínas Nucleares
/
Proteínas de Ligação a DNA
Idioma:
En
Ano de publicação:
1996
Tipo de documento:
Article