title: H-Y antigen in X,i(Xq) gonadal dysgenesis: evidence of X-linked genes in testicular differentiation.
abstract: Three years ago, we detected H-Y antigen in the white blood cells of a phenotypic female with several of the stigmata of Turner's syndrome, and the mosaic karyotype: 45,X/46,X,i(Xq). We surmised at the time that the isochromosome, i(Xq), may have contained occult Y-Chromosome-derived material. We have now confirmed the presence of H-Y in this patient and we have obtained evidence for the presence of H-Y in four of five other similar patients, all of whom are notable for carrying at least a single cell line with the karyotype 46,Xi(Xq). Although we cannot categorically exclude the presence of Y-chromosomal genes in the cells of these patients, there is no cytogenetic evidence of structural rearrangement involving the Y in any of the cases. Expression of H-Y structural genes are X-situated, or alternatively that they are autosomal and X-regulated. It would follow that the H-Y+ cellular phenotype per se is not a valid marker for the Y-chromosome, and that H-Y genes that have been mapped to the pericentric region of the Y may be regulatory.
mesh_terms: D000293:Adolescent; D000328:Adult; D000818:Animals; D002648:Child; D002675:Child, Preschool; D002871:Chromosome Banding; D003601:Cytotoxicity Tests, Immunologic; D005260:Female; D005347:Fibroblasts / Q000276:immunology; D006059:Gonadal Dysgenesis / Q000097:blood / Q000235:genetics* / Q000276:immunology; D006182:H-Y Antigen / Q000235:genetics*; D006801:Humans; D007962:Leukocytes / Q000276:immunology; D008297:Male; D051379:Mice; D008875:Middle Aged; D009030:Mosaicism; D013737:Testis / Q000254:growth & development; D014424:Turner Syndrome / Q000235:genetics; D014960:X Chromosome / Q000502:physiology
chemical_list: D006182:H-Y Antigen