Y chromosome specific probes identify breakpoint in a 45,X/46,X,del(Y)(pter----q11.1:) karyotype of an infertile male.
- 1 May 1989
- journal article
- case report
- Published by BMJ in Journal of Medical Genetics
- Vol. 26 (5) , 330-333
- https://doi.org/10.1136/jmg.26.5.330
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.Keywords
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