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Research Article
Y chromosome specific probes identify breakpoint in a 45,X/46,X,del(Y)(pter----q11.1:) karyotype of an infertile male.
  1. G C Beverstock,
  2. J D MacFarlane,
  3. H Veenema,
  4. H Hoekman,
  5. P J Goodfellow
  1. Department of Clinical Genetics, University Hospital, Leiden, The Netherlands.

    Abstract

    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.

    https://doi.org/10.1136/jmg.26.5.330

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