X;Y translocation in a female with streak gonads, H-Y- phenotype, and some features of Turner's syndrome

T. E. Kelly, S. S. Wachtel, L. Cahill, V. M. Barnabei, K. Willson-Suddath, H. E. Wyandt

Research output: Contribution to journalArticlepeer-review

15 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)122-126
Number of pages5
JournalCytogenetic and Genome Research
Issue number2
StatePublished - Jan 1 1984
Externally publishedYes

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Genetics(clinical)


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