一名具有46,XY/45,XO/47,XXY嵌合核型及混合表型男性的不育症和多种泌尿生殖系统异常
Infertility and multiple urogenital abnormalities in a male with mosaic 46,XY/45,XO/47,XXY karyotype and mixed phenotype.
作者信息
Filiadis I F, Syrrou M B, Bai M C, Georgiou I A, Pagoulatos G N, Giannakopoulos X
机构信息
Department of Urology, Ioannina University School of Medicine, Ioannina, Greece.
出版信息
Urol Int. 1998;61(2):111-4. doi: 10.1159/000030299.
PMID:9873251
Abstract
We hereby present a rare case of a 46,XY/45,XO/47,XXY mosaic male patient with a predominance of the XY cell line. The patient, who exhibited phenotypic stigmata of both XO gonadal dysgenesis and Klinefelter syndromes, suffered from infertility and multiple urogenital abnormalities, as our investigation revealed.
摘要
我们在此报告一例罕见的46,XY/45,XO/47,XXY嵌合型男性患者，其中XY细胞系占优势。正如我们的研究所揭示的，该患者表现出XO性腺发育不全和克氏综合征的表型特征，患有不孕症和多种泌尿生殖系统异常。
Zotero 插件