Y chromosome specific probes identify breakpoint in a 45,X/46,X,del(Y)(pter----q11.1:) karyotype of an infertile male.

نویسندگان

  • G C Beverstock
  • J D MacFarlane
  • H Veenema
  • H Hoekman
  • P J Goodfellow
چکیده

An infertile male patient with a 45,X peripheral blood karyotype and a 45,X/46,X,del(Y)(pter----q11.1:) mosaic skin fibroblast karyotype is described. Steroid sulphatase (STS) activity was normal. Recombinant DNA studies using Y chromosome specific probes suggest that almost the entire long arm of the Y chromosome is deleted.

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عنوان ژورنال:
  • Journal of medical genetics

دوره 26 5  شماره 

صفحات  -

تاریخ انتشار 1989