3376例复发性流产夫妻染色体核型分析

发布时间：2018-06-24 18:39

本文选题：流产 + 习惯性　；参考：《中国全科医学》2015年09期

【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。
[Abstract]:Objective to analyze the types of chromosomal variation in peripheral blood of couples with recurrent abortion (RSA) and its distribution in males and females so as to provide evidence for clinical counseling and subsequent reproductive intervention. Methods from September 2007 to August 2014, a total of 3,376 couples with RSA, the main cause of gynecology and obstetrics outpatient, were selected from the first Hospital of Peking University to analyze the karyotype of peripheral blood chromosomes, and to compare the incidence and type of chromosome variation. The difference in sex between men and women. Results among the 3 376 RSA couples, 146 (4.32%) had chromosome variation, including 85 males and 61 females. After chromosome polymorphisms (including Y chromosome variation (29 cases), chromosome secondary constriction increase (28 cases), chromosomal aberration in D / G group (25 cases) and interarm inversion (21 cases), there were 43 cases of chromosomal abnormality, in which mutual translocation was the most common. There were 27 cases (62.79%), followed by 5 cases of Roche translocation (11.63%), 5 cases of inversion (11.63%), 3 cases of female sex chromosome chimera (6.98%), 2 cases of sex reversal syndrome (4.65%) and 1 case of male Marker chromosome chimera (2.32%). In terms of chromosome polymorphism, Y chromosome variation was the most common in males (34.12 / 85). Conclusion the chromosomal abnormalities in RSA couples' peripheral blood are mainly mutual translocation. It is necessary to examine the peripheral blood chromosomes of the couples who visit for RSA reasons at the same time.
【作者单位】：北京大学第一医院妇产科;
【基金】：国家自然科学基金重大项目(8149740035) 国家重点基础研究发展计划(2015CB943300)
【分类号】：R714.21

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