中文摘要：

目的分析复发性流产（RSA）夫妻外周血染色体变异发生种类及其在男女性中的分布特点,为指导临床咨询及后续生殖干预提供依据。方法选取2007年9月—2014年8月在北京大学第一医院妇产科门诊主因RSA就诊的夫妻3 376例,进行外周血染色体核型分析,比较染色体变异的发生率、种类、在男女性中的比例差异。结果3 376例RSA夫妻中发现染色体变异146例（4.32%）,其中男85例,女61例,除去染色体多态性改变〔包括Y染色体变异（29例）、染色体次缢痕增加（28例）、D/G组染色体随体区变异（25例）及9号臂间倒位（21例）〕后,染色体异常共43例,其中相互易位最多见,为27例（62.79%）,其次为罗氏易位5例（11.63%）,倒位5例（11.63%）,女性性染色体嵌合3例（6.98%）,性反转综合征2例（4.65%）,男性Marker染色体嵌合1例（2.32%）。染色体多态性方面,男性以Y染色体变异最为多见（34.12%,29/85）。结论 RSA夫妻外周血染色体异常均有发生,染色体异常以相互易位为主,对以RSA原因就诊的夫妻,有必要同时对夫妻双方进行外周血染色体检查。

英文摘要：

Objective To analyse the types and distribution characteristics of peripheral blood chromosomal variation among couples with recurrent spontaneous abortion（ RSA）, to provides guidance for clinical counseling and subsequent reproductive intervention. Methods A total of 3 376 cases of RSA couples who came to obstetrics and gynecology clinic of the First Hospital of Peking University from September 2007 to August 2014, were selected as study subjects, peripheral blood karyotype analysis was performed,the incidence,type and sex distribution were analyzed. Results Among 3 376 RSA cases,there were 146 cases with chromosomal variation（ 4. 32%）（ 85 males and 61 females）. After exclusion of chromosomal polymorphism 〔（ 29 cases of Y chromosomal variation,28 cases of increased number of secondary constriction,25 cases of sat- zone variation in D / G chromosome,21 cases of pericentric inversion of chromosome 9〕,there were 43 cases with chromosomal variation. The most frequent type of chromosomal variation was reciprocal translocation（ 27 cases,62. 79%）, following by Robertsonian translocation（ 5 cases,11. 63%）,inversion（ 5 cases,11. 63%）, female sex chromosomal mosaic（ 3 cases,6. 98%）,sex reverse syndrome（ 2 cases,4. 65%）, and male Marker chromosomal mosaic（ 1 case,2. 32%）. The most frequent type of chromosomal variation was Y chromosomal variation among male group（ 34. 12%,29 /85）. Conclusion The peripheral blood chromosomal variation can be seen in male and females of RSA couples, reciprocal translocation is the most frequent chromosomal variation type,RSA couples should undergo peripheral blood karyotype analysis at the meantime.