【摘要】 目的:探讨反复流产夫妇染色体异常及染色体多态性检测及分析情况,为反复流产患者遗传咨询提供依据。方法:对2009年1月至2012年7月于广西壮族自治区妇幼保健院进行遗传咨询的3978例反复流产(≥2次)夫妇,采用常规方法细胞培养、G显带及C显带检测染色体核型及染色体多态性。结果:3978例反复流产夫妇检出异常核型137例,检出率为3.44%;检出染色体数目异常22例(0.55%),其中标记染色体7例,特纳综合征嵌合体10例,性染色体三体5例;结构异常115例(2.89%),其中罗伯逊易位13例,平衡易位99例,缺失1例,倒位2例。染色体多态性200例(5.03%),包括9号倒位、异染色质增减(lqh+、9qh+、16qh+、Yqh)及异染色质性质变化(13ps+、15ps+、21ps+、22ps+、13pstk+、14pstk+、15pstk+、22pstk+、15cenh+、22cenh+)。结论:反复流产患者染色体异常以染色体结构异常为主,其中以衡易位的检出最多。同时,应注意染色体多态性对反复流产的影响。更多还原

【Abstract】 Objective: To examine the major chromosomal abnormalities and chromosome polymorphism in couples with recurrent abortion,and provide valuable information for their genetic counseling. Methods: 3978 cases with two or more times of spontaneous abortions were karyotyped during cytogenetic surveys at the Guangxi Zhuang Autonomous Region Women and Children Care Hospital from January 2009 to July 2012 and their clinical data were retrospectively reviewed. The peripheral blood lymphocytes were cultured,and the karyotype were analysed with G,C banding. Results: In all,abnormal karyotyes of peripheral blood lymphocytes were found in 137 cases( 3. 44%). The abnormalities in number of chromosome were detected in 22 patients( 0. 55%),including mark chromosome( n = 7),45,X mosaic( n = 10),and sex chromosome abnormalities( n = 5). The abnormalities in chromosome structure were detected in 115 cases( 2. 89%),including 13 cases for Robertsonian translocation,99 cases for reciprocal translocation,one case for deletion and two cases for chromosomal inversion. Inversion of chromosome 9,quantitative( lqh +,9qh +,16 qh +,Yqh) and qualitative( 13 ps +,15 ps +,21 ps +,22 ps,13pstk +,14 pstk +,15 pstk +,22 pstk +,15 cenh +,22 cenh +) heterochromatic polymorphisms were detected in 200 patients( 5. 03%). Conclusions: The major chromosomal abnormalities in couples with recurrent abortion were abnormal chromosome structure,especially reciprocal translocation. Genetic counselors should pay attention to the chromosome polymorphism in the etiology of recurrent spontaneous abortion.更多还原