河南漯河地区1 450例遗传咨询者的外周血染色体核型分析  

Chromosomal karyotype analysis of 1450 subjects attending genetic counseling in Henan Luohe area

作　　者：辛淑文 杨少哲 胥博 滕少侠[1] 李荣香[1] 付秀虹[1] XIN Shuwen;YANG Shaozhe;XU Bo;TENG Shaoxia;LI Rongxiang;FU Xiuhong(Center for Reproductive Medicine and Genetics,Luohe Central Hospital/Henan Key Laboratory of Fertility Protection and Aristogenesis/Luohe Maternity and Reproductive Genetics Hospital/Luohe Prenatal Diagnosis Center/Luohe Birth Defect Prevention Center,Luohe,Henan 462000,China)

机构地区：[1]漯河市中心医院生殖医学与遗传中心/河南省生育力保护和优生重点实验室/漯河市妇产生殖遗传医院/漯河市产前诊断中心/漯河市出生缺陷防治中心,河南漯河462000

出　　处：《现代医药卫生》2021年第22期3807-3810,3815,共5页Journal of Modern Medicine & Health

基　　金：河南省卫生健康委员会医学科技攻关计划联合共建项目(LHGJ20191418);漯河医学高等专科学校2020年度创新创业发展能力提升工程科研类项目(2020-LYZKYYB021)。

摘　　要：目的探讨外周血染色体核型分析技术在优生遗传咨询中的病因诊断价值。方法选取2017年1月至2020年3月在漯河市中心医院进行遗传咨询的患者1450例,采用染色体核型分析技术对优生遗传咨询患者外周血进行检测。结果1450例患者中检出染色体异常94例(6.48%),染色体多态性58例(4.00%),染色体数目异常12例(0.83%),染色体结构异常23例(1.59%),性别反转1例(0.07%)。结论外周血染色体核型分析技术可有助于为不良孕产史、原发不孕、少弱精子症等患者明确病因,为优生遗传咨询提供科学依据。Objective To explore the etiological diagnostic value of the peripheral blood chromosome karyotype analysis in the eugenic genetic counseling.Methods A total of 1450 patients with genetic counseling in Luohe Central Hospital from January 2017 to March 2020 were collected.The chromosome karyotype analysis was used to test the peripheral blood of patients with eugenic genetic counseling.Results In 1450 cases,a total of 94 cases with chromosomal abnormality were detected(6.48%).Among them,there were 58 cases of chromosome polymorphism(4.00%),12 cases of chromosome number abnormality(0.83%),23 cases of chromosome structure abnormality(1.59%)and one case of sex inversion(0.07%).Conclusion The chromosome karyotype analysis in the peripheral blood can help to identify the etiology of the adverse pregnancy history,primary infertility and oligospermia or asthenospermia and so on,and to provide the scientific basis for the eugenic genetic counseling of patients.

关 键 词：染色体核型分析 遗传咨询 不孕症 无精子症 河南 

分 类 号：R715.5[医药卫生—妇产科学]