[Genetic factor of sex determination].
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.
Abbas
N
N
INSERM, U276, Institut Pasteur, Paris.
Toublanc
J
J
Rappaport
R
R
Fekete-Nihoul
C
C
Boucekine
C
C
Chabouni
H
H
Fellous
M
M
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
Facteur génétique de la détermination du sexe.