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Y chromosome specific probes identify breakpoint in a 45,X/46,X,del(Y)(pter----q11.1:) karyotype of an infertile male
G C Beverstock1, J D MacFarlane, H Veenema
1Department of Clinical Genetics, University Hospital, Leiden, The Netherlands.
Journal of Medical Genetics
|May 1, 1989
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.