摘要
男性不育原因颇多，其中一部分为染色体异常所致［１］．我们对５０例无精症患者进行外周血淋巴细胞染色体分析，结果发现１６例性染色体数目或结构异常，占３２．０％。其中ｄｅｌ（Ｙ）（ｑｌｌ）２例、大Ｙ１例、４７，ＸＸＹ纯合型６例、４７，ＸＸＹ／４６，ＸＹ各种嵌合型４例、４６，ＸＹ／４５，Ｘ２例以及４６，ＸＸ１例。本文并结合文献讨论了无精与性染色体之间关系，对１例罕见的性反转综合症患者进行初步的分析。
Male infertility is one of the most common causes in abnormal fertility。Some of them have chromosomal unusualness.Cytogenetic investigations were carried out on 50 males with azoospermia。Chromosomal prepartions made from peripheral blood lymphocytes were analysed with conventional GTG and CBG banding techniques.We found 16 patients showed numerical structural abnormalities of sex chromosome (32.0%):2 subjects With del(Y)(q11),1 with a large Y(Y+),6 with47,XXY,4 with 47,XXY/46,XY,2 with 46,XY/45,X and 1 with 46,XX. The relationship between sex chromosome and azoospermia is discussed.The 46,XX male iS a very rarely case known as sex reversed syndrome.For this case,further studies were needed to ascertain the presence of Yp specific materials.
关键词
无精症
染色体
细胞遗传学
睾丸
azoospermia
chromosome
cytogenetics
gene
testis
sex reversed syndrom
