[关键词]
[摘要]
目的: 分析复发性自然流产( RSA) 夫妇中女性染色体情况,为指导生殖诊断及干预提供依据。方 法: 选择 2014-02~ 2018-06 期间在内蒙古医科大学附属医院妇科门诊就诊,确诊为 RSA 的 1060 对( 2120 例) 夫 妇进行外周血染色体核型分析,重点观察女性染色体变异的发生率、类型及其分布情况。结果: 2120 例受试者 中染色体异常共检出 154 例( 7.26%) ,染色体异常核型中女性共 99 例占64.29%,男性 55 例占35.71%,女性染色 体异常率高于男性,差异具有统计学意义( P<0.05) ; 女性染色体异常检出者中以多态变异核型最常见,共检出 57 例,占56.57%,分别为 9 号染色体臂间倒位 27 例,D/G 组随体增加 16 例和次缢痕增加 14 例; 本组染色体结构 异常共检出 39 例,占39.39%,分别为罗伯逊易位 21 例、相互易位 14 例和倒位 4 例; 本组染色体数目异常共检出 3 例,占3.03%,表现为性染色体嵌合。结论: 复发性自然流产夫妇中女性染色体变异比例较高,其分布主要集中 于染色体多态性和染色体结构异常方面; 加强对有自然流产史女性的细胞遗传学观察,对明确 RSA 的病因学特 征具有重要意义。
[Key word]
[Abstract]
Objective: To analyze the chromosomal variation of female in recurrent spontaneous a- bortion( RSA) and provide guidance for the diagnosis and treatment of reproductive. Methods: From February 2013 to June 2017 in the department of gynecology department of the first affiliated hospital of inner Mongolia medical university,we confirmed that 1060 cases of RSA patients ( 2120 cases) underwent peripheral blood chromosome karyotype analysis,mainly to observe the incidence,classifica- tion and distribution of female chromosome variation.Results: 2120 subjects,154 cases( 7.26%) were detected abnormal chromosome,99 cases( 64.29%) were female,55 cases( 35.71%) were male ( P < 0.05) ,the difference was statistically significant( P < 0.05) . There were 57 cases( 56.57%) with the highest number of polymorphic mutations in female chromosome abnormality detection,27 cases of arm inversion of chromosome 9,and 16 cases of satellite increase in d /g group and 14 cases of secondaryconstriction.In this group,39 cases( 39.39%) were detected,including 21 cases of Robertsonian translo- cation,14 cases of reciprocal translocation and 4 cases of inversion. There were 3 cases of abnormal chromosome number,accounting for 3.03%,which showed sex chromosome mosaic.Conclusion: The fe- male chromosome variation is high in recurrent spontaneous abortion,which is mainly distributed in chromosome polymorphism and structural abnormality of chromosome.Strengthening the observation of cytogenetics in women with the history of spontaneous abortion is of great significance in finding the eti- ology of RSA.
[中图分类号]
R711.7
[基金项目]
收稿日期: 2018-06-20; 修回日期: 2019-02-24 基金项目: 国家自然科学基金( 81660542) 作者简介: 武艾宁( 1975-) ,女,内蒙古医科大学附属医院妇科主治医师。 通讯作者: 赵晓曦,主任医师,E-mail: wuaining1971@ 163.com 内蒙古医科大学附属医院妇科,010050