男性不育症患者的细胞遗传学分析

目的探讨男性不育症患者的染色体时变率、畸变类型及染色体畸变与表型的关系．方法１２８例男性不育症患者，取患者外周血体外培养７２ｈ，按常规方法制备染色体标本，ＧＴＧ显带，必要时作ＣＢＧ显带和高分辨Ｇ带。结果染色体畸变２３例：４７，ｘｘｙ１７例，ｙｑ－２例，常染色体畸变４例．畸变率为１７．９６％。结论异常核型中以４７，ｘｘｙ发生率最高。４７，ｘｘｙ患者均具有小睾丸、无精子、第二性征不明显等典型的Ｋｌｉｎｅｆｅｌｔｅｒ综合征体征。

Cytogenetic analysis in patients with male infertility

Objective To research the incidence and typeof chromosomal aberration in patients with maleinfertility and the relationship betweenchromosomal abnormalities and phenotype.Method One handred twenty eight patientSwith male infertility was observed. The patient'sPeripheral blood lymphocytes were cultured for 72hours.Chromosomal preparations with theroution methods were analysed by G--banding inall cases and additionally by C--banding and highresolution chromosome (HRC) G--banding insome cases.Result The chromosomal aberration (17cases 47, XXY, 2 cases Yq--, 4 cases autosomolabnormalities) were discovered in 23 cases. Theoverall incidence of chromosomal abnormalitieswas 17.96 %.Conclusion The incidence of 47, XXY abnormal karyotypes is the highest in 128 patientSwith mal infertility.The Patients with 47, XXYhave the typical Klinefelter's .syndrome physicalfeatures with the symptomes of small testis.azoospermia and with no obvious secondary sexual characteristics.