摘要
在男性不育症的遗传咨询门诊中，发现的染色体异常绝大多数为典型的４７，ＸＸＹＫｌｉｎｅｆｅｌｔｅｒ综合征，但我们也发现一些较为特殊的核型，其中多Ｘ及多Ｘ嵌合体的３例，Ｙ染色体结构异常及Ｙ染色体与常染色体易位２例；常染色体之间的平衡易位６例。本文讨论了染色体的异常与男性不育症之间的可能关系。
Among the genetic counseling of male infertility, more cases of chromosomal abnormality are Kliniefelter syndrome (47, XXY and 46, XY/47, XXY), but some specialkaryotypes are found:①Klinefelter syndrome of excessive X chromosome and mosaicism: 46,XY/48, XXXY;46, XY/ 47, XXY/48, XXYY; 48, XXXY.②abnormal structure of Ychromosome and Y-autosomal translocation:45,X/46, X, del (Yq); 45, X, t(Yq; 13).③autosomal balanced translocation:Robertsonian translocation 45, XY, t(13; 21);45, XY, t(13;14); 46,XY, t(1; 8);46, XY, t(15; 19);46, XY, t(11;19); 46, XY, t(1; 5), inv (12). This study showed the relations between abnormal chromosome and male infertility.
关键词
不育症
男性
染色体组型
病理
male infertility chromosomal abnormality
