488例不孕不育和有不良孕产史患者外周血染色体细胞遗传学检测结果分析  

Results of peripheral blood chromosome cytogenetics in 488 patients with infertility and adverse pregnancy history

作　　者：苏霞[1] 夏爱华[2] 吴金芹 龚章宏 SU Xia;XIA Aihua;WU Jinqin;GONG Zhanghong(Clinical Cytomolecular Genetics Unit,Beihai Municipal People's Hospital,Beihai,Guangxi 536000,China;Department of Obstetrics,Beihai Municipal People's Hospital,Beihai,Guangxi 536000,China)

机构地区：[1]北海市人民医院临床细胞分子遗传室,广西北海536000 [2]北海市人民医院产科,广西北海536000

出　　处：《医药前沿》2025年第11期17-20,共4页Journal of Frontiers of Medicine

摘　　要：目的分析488例不孕不育和有不良孕产史患者外周血染色体细胞遗传学检测结果。方法选取2022年1月—2024年4月北海市人民医院收治的488例不孕不育和有不良孕产史的患者为研究对象,采集患者外周静脉血,随后进行淋巴细胞培养,检测患者淋巴细胞的染色体异常核型并进行G、C、N显带染色体核型分析。结果488例患者中,检出染色体核型异常10例,检出率2.05%;染色体核型异常情况包括染色体平衡易位7例(70.00%)和罗氏易位3例(30.00%);检出43例有染色体多态性改变,检出率8.81%;染色体多态性改变主要为9号染色体臂间倒位(16例,37.21%)和1、9、16号染色体次缢痕增加(13例,30.23%)。结论488例患者中,染色体异常总检出率较高,染色体核型异常以平衡易位和罗氏易位为主;染色体多态性改变以9号染色体臂间倒位和1、9、16号染色体次缢痕增加为主。Objective To analyze the results of peripheral blood chromosome cytogenetics in 488 patients with infertility and adverse pregnancy history.Methods A total of 488 patients with infertility and adverse pregnancy history admitted to Beihai Municipal People's Hospital from January 2022 to April 2024 were selected as the research objects.Peripheral venous blood samples were collected from the patients,and then lymphocyte culture was performed.The abnormal karyotypes of lymphocytes were detected,and G,C and N banding karyotypes were analyzed.Results Among the 488 patients,10 cases of chromosomal karyotype abnormalities were detected,with a detection rate of 2.04%.Chromosomal karyotype abnormalities included 7 cases of balanced translocation(70.00%)and 3 cases of Roche translocation(30.00%).A total of 43 cases of chromosome polymorphism were detected,and the detection rate was 8.81%.The changes of chromosome polymorphism were mainly the inversion between arms of chromosome 9(16 cases,37.21%)and the increased secondary constriction of chromosome 1,9 and 16(13 cases,30.23%).Conclusions Among the 488 patients,the total detection rate of chromosomal abnormalities is high,and the chromosomal karyotype abnormalities are mainly balanced translocation and Roche translocation.The changes of chromosome polymorphism are mainly the inversion between arms of chromosome 9 and the increased secondary constriction of chromosome 1,9 and 16.

关 键 词：不孕不育 不良孕产史 染色体核型分析 染色体核型异常 染色体多态性 

分 类 号：R596[医药卫生—内科学]