X;Y translocation in a female with streak gonads, H-Y- phenotype, and some features of Turner's syndrome.
In women X;Y translocations usually arise as Xp-Yq exchanges. We describe a 17-year-old female with streak gonads, some minor features of Turner's syndrome, and an X;Y translocation involving an exchange between Xq and Yq. Histological examination of the gonads revealed a fibrous stroma with prominent hilar cells. Cultured fibroblasts and peripheral lymphocytes were typed H-Y-. Examination of a buccal smear revealed a single intranuclear structure with the appearance of both a Barr body and a fluorescent Y body. This finding was consistent with the results of BrdU studies showing that the translocation X chromosome had been inactivated in all cells analyzed.
D000293:Adolescent; D002478:Cells, Cultured; D002648:Child; D002871:Chromosome Banding; D005260:Female; D006182:H-Y Antigen / Q000032:analysis; D006801:Humans; D008297:Male; D010641:Phenotype; D012867:Skin / Q000473:pathology; D014178:Translocation, Genetic; D014424:Turner Syndrome / Q000235:genetics*; D014960:X Chromosome; D014998:Y Chromosome
D006182:H-Y Antigen