[XX male syndrome: a study model of the genetic determination of the male sex].
Using Y-specific probes, issued from a library of the human Y chromosome, DNA from about 30 XX men has been studied by the Southern technique. Two groups of patients could be distinguished: one with Y genetic material, the second, without Y DNA. Among XX males with Y sequences there was a genetic heterogeneity with a variable amount of Y DNA sequences. These Y DNA sequences come from the short arm of the Y chromosome and are probably translocated to the paternal X. Concerning the other group, in which no Y sequence could be detected, either Y DNA was present but was not detected, or the mechanism of maleness was Y-independent.
D001483:Base Sequence; D003434:Crossing Over, Genetic; D004247:DNA / Q000235:genetics; D006801:Humans; D007621:Karyotyping; D008297:Male; D012732:Sex Determination Analysis; D013577:Syndrome; D014178:Translocation, Genetic; D014960:X Chromosome / Q000648:ultrastructure*; D014998:Y Chromosome / Q000032:analysis / Q000648:ultrastructure*
D004247:DNA
Le syndrome des hommes XX: un modèle d'étude de la détermination génétique du sexe masculin.