X;Y translocation in a female with streak gonads, H-Y–phenotype, and some features of Turner’s syndrome
作者:
T.E. Kelly,
S.S. Wachtel,
L. Cahill,
V.M. Barnabei,
K. Willson-Suddath,
H.E. Wyandt,
期刊:
Cytogenetic and Genome Research
(Karger Available online 1984)
卷期:
Volume 38,
issue 2
页码: 122-126
ISSN:1424-8581
年代: 1984
DOI:10.1159/000132043
出版商: S. Karger AG
数据来源: Karger
摘要:
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 analy
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