Y染色体特异性探针鉴定出一名不育男性45,X/46,X,del(Y)(pter----q11.1:)核型中的断点。
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
本文描述了一名外周血核型为45,X，皮肤成纤维细胞核型为45,X/46,X,del(Y)(pter----q11.1:)的不育男性患者。类固醇硫酸酯酶（STS）活性正常。使用Y染色体特异性探针进行的重组DNA研究表明，Y染色体的几乎整个长臂都缺失了。
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