309例男性不育患者的染色体核型分析

Analysis of chromosome karyotypes in 309 male infertile patients

目的：探讨男性不育与染色体异常的关系。方法回顾性分析2012～2013年临床诊断为男性不育患者309例，其中包括生精功能异常组（A组）206例，配偶复发性自然流产组（B组）103例。采集所有病例外周血行常规细胞培养及G显带，镜下观察并分析染色体核型。结果 A组206例患者染色体异常发生率为8．7％（18／206），其中严重少精症患者中染色体异常发生率为7．6％（11／145），无精症患者中染色体异常发生率为11．5％（7／61）；最常见的染色体异常是47，XXY ，共检出8例（包括1例镶嵌体），占异常核型的44．4％（8／18）。B组103例患者染色体异常发生率为9．7％（10／103），10例染色体异常全为平衡型染色体结构异常，包括6例相互易位，2例罗氏易位，2例臂间倒位。结论染色体异常是男性不育的重要遗传学病因，男性不育患者应行染色体检查以排除染色体异常。

Objective To explore the relationship between chromosomal abnormalities and male infertility . Methods A total of 309 cases diagnosed as male infertility from 2012 to 2013 were enrolled in this study and divided into two groups （206 cases with severe oligospermia and azoospermia for group A ,and 103 cases with recurrent spon‐taneous abortion for group B） .Cell culture and G‐binding were conducted after drawing peripheral blood in all 309 ca‐ses ,and chromosome karyotypes were observed and analyzed under microscope .Results The frequency of chromo‐some abnormalities was 8 .7% （18/206） in group A ,of which the frequency of chromosome abnormalities in severe oligospermia cases and azoospermia cases was 7 .6% （11/145）and 11 .5% （7/61） respectively .Karyotype 47 ,XXY was the most common chromosome abnormality ,accounting for 44 .4% （8/18） of all chromosome abnormalities .The frequency of chromosome abnormalities was 9 .7% （10/103） in group B .Ten cases with balanced chromosome struc‐tural abnormalities were detected ,including 6 cases with reciprocal translocations ,2 cases with Robertsonian translo‐cations and 2 cases with pericentric inversions .Conclusion Chromosome abnormality could be an important genetic factor for male infertility .Cytogenetic analysis should be performed in male infertile patients for excluding potential chromosome abnormalities .