The role of Yp in sex determination: new evidence from X/Y translocations.
A 33-year-old man had azoospermia and tubular atrophy as in the Klinefelter syndrome but short stature. He had a 46,X,t(X/Y) (Xqter lead to p22.3::Yp11 lead to Yqter) translocation and was H-Y antigen-positive. This excludes one of the genes controlling H-Y antigen from the terminal portion of the short arm of the Y chromosome. This case and the two similar ones in the literature indicate that the proximal Yp portion is required for the differentiation of a male gonad. The pattern of X inactivation was random in the patient's fibroblasts, whereas in the lymphocytes the translocated chromosome was preferentially inactivated; comparison with other cases shows that the quantity of Y chromosome material involved in these translocations does not influence the X inactivation patterns. In the three cases with this dicentric translocation the X chromosome centromere is consistently the active one. Our case indicates that the choice of which centromere is inactivated is independent of the replication pattern of the X chromosome. Our patient and a few other relevant cases from the literature confirm that factors controlling height are located on the distal portion of Xp and of Yp.
D000328:Adult; D001827:Body Height; D002478:Cells, Cultured; D002871:Chromosome Banding; D005260:Female; D005347:Fibroblasts; D006182:H-Y Antigen / Q000235:genetics*; D006801:Humans; D007621:Karyotyping; D008214:Lymphocytes; D008297:Male; D012732:Sex Determination Analysis; D043266:Steryl-Sulfatase; D013429:Sulfatases / Q000378:metabolism; D013737:Testis / Q000648:ultrastructure; D014178:Translocation, Genetic; D014960:X Chromosome / Q000648:ultrastructure
D006182:H-Y Antigen; D013429:Sulfatases; D043266:Steryl-Sulfatase