[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.