Y chromosome specific probes identify breakpoint in a 45,X/46,X,del(Y)(pter----q11.1:) karyotype of an infertile male.
作者信息
Beverstock G C, MacFarlane J D, Veenema H, Hoekman H, Goodfellow P J
机构信息
Department of Clinical Genetics, University Hospital, Leiden, The Netherlands.
出版信息
J Med Genet. 1989 May;26(5):330-3. doi: 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.
摘要
Zotero 插件