H-Y antigen expression in patients with X-autosomal translocations and gonadal dysgenesis

F. P. Haseltine, V. A. Lynch, D. L. van Dyke, W. R. Breg, U. Francke

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9 Scopus citations


Cells from three patients with early gonadal failure and a balanced reciprocal translocation involving the long arm of the X chromosome and an autosome were studied. Fibroblasts from a patient with a similar balanced reciprocal translocation but normal reproductive capabilities were also studied. Two of the four patients were found to have serologically detectable H-Y antigen on their cells. Since H-Y antigen has been found on the cells of other patients with X chromosome abnormalities but without a Y chromosome, it is thought that the X chromosome plays a role in the regulation of H-Y antigen expression. This study suggests that the long arm of the X chromosome may be involved but the location of a regulatory gene cannot be identified in these results. These cases do not permit us to implicate H-Y antigen as a cause of gonadal dysgenesis and early gonadal failure in females who have structurally abnormal X chromosomes.

Original languageEnglish (US)
Pages (from-to)115-123
Number of pages9
JournalAmerican Journal of Medical Genetics
Issue number2
StatePublished - 1982
Externally publishedYes


ASJC Scopus subject areas

  • Genetics(clinical)

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