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 w ith 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.