title: [Genetic factor of sex determination].
abstract: We have analyzed 40 cases of human XX male or XX true hermaphrodites negative for Y DNA sequences including ZFY. Among these patients we were able to demonstrate the existence of at least 3 mechanisms. 1) In one case a mosaïscism 46XY/46XX is limited to the gonad and only detected by PCR. 2) Familial cases compatible with the mutation of an autosomal (or pseudo-autosomal) down stream sex determining gene. 3) We finally observed 5 cases lacking ZFY meanwhile carrying Y specific sequences near to the pseudo-autosomal boundary, redifining the region where TDF must lie.
authors.affiliation: INSERM, U276, Institut Pasteur, Paris.
authors.forename: N
authors.initials: N
authors.lastname: Abbas
authors.forename: J
authors.initials: J
authors.lastname: Toublanc
authors.forename: R
authors.initials: R
authors.lastname: Rappaport
authors.forename: C
authors.initials: C
authors.lastname: Fekete-Nihoul
authors.forename: C
authors.initials: C
authors.lastname: Boucekine
authors.forename: H
authors.initials: H
authors.lastname: Chabouni
authors.forename: M
authors.initials: M
authors.lastname: Fellous
mesh_terms: D000818:Animals; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D002874:Chromosome Mapping; D006801:Humans; D007621:Karyotyping; D012733:Sex Differentiation / Q000235:genetics*; D014998:Y Chromosome
vernacular_title: Facteur génétique de la détermination du sexe.