H-Y antigen expression in patients with X-autosomal translocations and gonadal dysgenesis.
Cells from three patients with early gonadal failure and a balanced reciprocal translocation involving the long arm of the X chromosome and an autosome were studied. Fibroblasts from a patient with a similar balanced reciprocal translocation but normal reproductive capabilities were also studied. Two of the four patients were found to have serologically detectable H-Y antigen on their cells. Since H-Y antigen has been found on the cells of other patients with X chromosome abnormalities but without a Y chromosome, it is thought that the X chromosome plays a role in the regulation of H-Y antigen expression. This study suggests that the long arm of the X chromosome may be involved but the location of a regulatory gene cannot be identified in these studies. These cases do not permit us to implicate H-Y antigen as a cause of gonadal dysgenesis and early gonadal failure in females who have structurally abnormal X chromosomes.
D002478:Cells, Cultured; D002871:Chromosome Banding; D005260:Female; D006059:Gonadal Dysgenesis / Q000235:genetics*; D006182:H-Y Antigen / Q000235:genetics*; D006801:Humans; D007621:Karyotyping; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D012867:Skin / Q000166:cytology; D014178:Translocation, Genetic; D014960:X Chromosome
D006182:H-Y Antigen