536对反复自然流产夫妇的染色体核型分析  

Karyotype analysis of 536 couples for abortion

作　　者：夏蓓[1] 郑杰梅[1] 刘之英[1] 魏杨君[1] 刘洪倩[1] 

机构地区：[1]四川大学华西第二医院产前诊断中心,四川成都610041

出　　处：《中国优生与遗传杂志》2016年第10期53-55,共3页Chinese Journal of Birth Health & Heredity

摘　　要：目的探究536对反复自然流产夫妇的染色体核型异常情况。方法对2014年5月至2015年12月在我院就诊的536对反复自然流产夫妇进行回顾性分析。采用外周血染色体检查染色体核型。结果在536对反复自然流产夫妇中共检出染色体核型异常73例(均为夫妇一方),检出率为6.80%(73/1072)。染色体核型多态性51例,检出率为4.75%(51/1072)。其中男性染色体核型异常检出构成比为65.75%(48/73),高于女性染色体核型异常构成比34.25%(25/73)。常染色体异常核型总计45例,构成比为61.64%(45/73),包括平衡易位21例、罗氏易位6例、倒位18例,主要涉及1,2,3,4,5,6,7,8,9,11,13,22等号染色体。性染色体异常核型总计28例,检出构成比为38.36%(28/73),包括小Y 6例、倒位11例、Y长臂有随体2例、Turner综合征2例以及Turner综合征嵌合体7例。在本研究中共计53例染色体多态性核型,包括48例常染色体多态性核型核2例性染色体多态性(均为大Y)。结论染色体核型异常是造成流产的相关因素之一,其中男性染色体异常核型比例相对较高。并且染色体多态性的发生率也较高,临床上进行细胞遗传学检查具有重要意义。Objective：To explore the abnormal karyotype of 536 couples. Methods：from May 2014 to December 2015 were retrospectively analyzed in our hospital 536 couples. The peripheral blood chromosome karyotype. Results：In 536 couples abortion detected abnormal karyotypes in 73 cases（all couples party）,the detection rate was 6.80%（73/1072）. Karyotype polymorphism in 51 cases,the detection rate was 4.75%（51/1072）.The male karyotype abnormality accounted for 65.75%（48/73）,which was higher than that of female karyotype abnormalities than 34.24%（25/73）.A total of 45 cases of abnormal karyotype of chromosome,the ratio was 61.64%（45/73）,Including 21 cases of balanced translocation,6 cases of Robertsonian translocation,18 cases of inversion.the main sign relates to the 1,2,3,4,5,6,7,8,9,11,13,22 chromosome.A total of 28 cases of abnormal karyotype of chromosome were detected,accounting for 38.36%（28/73）,including small Y 6 cases,11 cases of inversion,2 cases of Y on the long arm with the body and 2 cases of Turner syndrome and Turner syndrome mosaicism in 7 cases.53 cases of chromosome karyotype polymorphism in this study total,including 48 cases of chromosomal polymorphism in 2 cases of chromosome karyotype of nuclear polymorphism（all Y）. Conclusion：Chromosomal abnormality is one of the factors causing miscarriage,male abnormal karyotype is relatively higher proportion.And the incidence of chromosomal polymorphism is also high,clinical cytogenetic analysis has important significance.

关 键 词：流产夫妇 染色体核型 染色体多态性 

分 类 号：R714.21[医药卫生—妇产科学]