5例世界首报不育男性异常染色体核型分析

Analysis of 5 cases of the world-first-reported karyotyping for chromosomal abnormalities in infertile males

目的:对发现的5例世界首报不育男性染色体异常核型进行研究探讨。方法:对本中心就诊的男性不育患者采用外周血淋巴细胞培养,常规G显带,目测结合计算机软件进行染色体核型分析,计数100个核型,分析30个核型(核型异常者加倍计数和分析)。结果:检出5例国内外首报异常染色体核型,分别是46,XY,t(1;6)(q21;q23);46,XY,t(1;17)(q21;q25);46,XY,t(2;5)(q14.2;q15);46,XY,t(8;12)(q13;q12);46,XY,t(15;19)(p10;p10)。结论:染色体异常是导致男性不育的重要遗传因素,对不育男性患者应常规进行染色体检查,并提供遗传咨询和生育指导,以有效避免各种遗传缺陷向子代传递。

Objective ： To explore 5 cases of the world - first - reported karyotyping for chromosomal abnormalities in infertile males. Methods： Chromosome in peripheral blood from male infertility patients were routinely cultured and stained by G ban- ding, and the chromosome karyotypes were evaluated with visual examination and computer software. Results： The world - first - reported abnormal chromosome karyotypes were as follows ： 46, XY, t （ 1 ;6） （ q21 ; q23 ）, 46, XY, t （ 1 ; 17 ） （ q21 ; q25 ）, 46,XY,t（2 ;5） （ q14.2 ; q15）, 6, XY, t （8 ; 12） （ q13 ; q12）, and 46, XY, t （ 15 ; 19） （ pl0 ; p10）. Conclusion ： Chromosome abnormality is an important genetic factor of male infertility. Routine chromosome examination should be conducted for male infertility patients. And the consultation on reproductive health and genetics should be provided in order to avoid all kinds of genetic defects.