304例染色体异常的不育男性细胞遗传学分析及精液状况的关系  

Semen status and cytogenetic analysis of 304 infertility male with chromosomal abnormalities

作　　者：江峰[1] 陈美芳[1] 张月萍[1] 陈国武[1] 孙晓溪[1] 

机构地区：[1]上海集爱遗传与不育诊疗中心,上海200011

出　　处：《中国男科学杂志》2010年第10期28-32,共5页Chinese Journal of Andrology

摘　　要：目的分析男性染色体异常核型的各类型频数及其精液状况。方法收集我中心自1998年9月至2009年10月共17820例成年男性外周血染色体结果 ,对检出的304例异常染色体核型类型和精液分析结果及部分已治疗的结局进行回顾性分析。结果 K1inefelter综合征占性染色体异常核型的首位(105/130),平衡易位和罗伯逊易位是常染色体异常核型的首位(144/168),除46XX患者外,并不完全没有生精功能。另外发现1例罕见的男性4条染色体复杂易位。结论精液分析结果已不能完全预测男性生育能力,许多严重少、弱精子症甚至精液分析正常的男性,都有可能伴有染色体异常,进行染色体检查及针对性进行植入前胚胎遗传学诊断对辅助生殖技术(ART)具有重要的临床意义。Objective To investigate the karyotype frequence of chromosomal abnormalities and semen status of infertility male. Methods Peripheral blood samples of 17820 adult males were collected for chromosomekaryotype analysis from September of 1998 to October of 2009. 304 cases with abnormal karyotype and their semen analysis results as well as treatment outcomes were analyzed retrospectively. Results The Klinefelter syndrome was the leading frequence of sex chromosome abnormalities （105/130）. The balanced translocation and Robertsonian translocation ranked the first position of autosomal chromosome abnormalities （144/168）. Other patients did not lose entirely sper- matogenic function except 46XX-type patients. One cases with a rare male 4 Chromosomes translocation complex was also found. Conclusion Semen analysis was not the only way to predict male fertility. Many infertility males with serious little asthenospermia or males with normal results of semen analysis were likely associated with chromosomal abnormalities. Karyotype analysis and preimplantation genetic diagnosis showed important clinical significances.

关 键 词：不育 染色体 核型 精液分析 

分 类 号：R698.2[医药卫生—泌尿科学]