摘要
目的探讨川南地区不孕不育人群中染色体异常核型的分布情况及其与临床表现的相关性。方法选择2018年7月至2021年6月到我院生殖医学中心门诊咨询的不孕不育患者4157例为研究对象,G显带检测外周染色体核型,收集患者精液常规分析数据。纳入2018年7月至2021年6月于我院生殖医学中心就诊的4157例不孕不育患者,行外周血染色体核型分析并收集精液常规分析结果和子宫发育情况等临床资料。结果4157例患者中检出染色体多态性239例(5.75%),染色体异常核型137例(3.30%)。染色体异常核型中包括:性染色体数目异常57例(41.61%),罗伯逊易位6例(4.38%),平衡易位32例(23.36%),染色体倒位21例(15.33%),嵌合体9例(6.57%),未知来源染色体8例(5.84%),性反转3例(2.19%),性染色体缺失1例(0.73%)。男性染色体异常核型患者中91.58%精液参数异常,多态性核型患者中55%精液异常;特纳综合征患者子宫各径(横径、纵径和前后径)线均小于正常对照组(P<0.01)。结论染色体异常是引起不孕不育的重要原因。开展染色体核型分析并联合临床表现分析,对不孕不育诊断及生育指导具有重要意义。
Objective To investigate the distribution of abnormal karyotypes and their associations with clinical manifestations of the infertile patients in southern Sichuan Province.Methods A total of 4157 infertile patients who attended the Reproductive Medicine Center of our hospital from July 2018 to June 2021 were included.The chromosome karyotype in peripheral blood was detected by G-banding,and their semen analysis results,uterine development and other clinical data were collected.Results Among the 4157 patients,chromosomal polymorphisms were found in 239 cases(5.75%),and abnormal karyotypes wee found 137 cases(3.30%).The abnormal karyotypes included 57 cases(41.61%)ofsex chromosomeaneuploidy,6cases(4.38%)ofRobertsoniantransloca-tions,32 cases(23.36%)of balanced translocations,21 cases(15.33%)of chromosomal inversions,9 cases(6.57%)of mosai-cism,8 cases(5.84%)of marker chromosomes,3 cases(2.19%)of sex reversal and 1 case(0.73%)of sex chromosome deletion.In male patients with abnormal karyotypes,91.58%showed abnormal semen parameters,while in those with polymorphic karyotypes,55%had abnormal semen parameters.The patients with Turner syndrome had significantly smaller uterine dimensions(longitudinal,transverse,and anteroposterior)compared to the normal control group(P<0.01).Conclusion Chromosomal abnormalities should be the important cause of infertility.Conducting karyotype analysis combining with clinical manifestations is crucial examination for the di-agnosis and reproductive guidance of infertile patients.
作者
成洋
刘星
张晖
周攀
罗庆
文霞
周家红
CHENG Yang;LIU Xing;ZHANG Hui;ZHOU Pan;LUO Qing;WEN Xia;ZHOU Jiahong(Department of Laboratory Medicine,the Affliated Hospital of Southwest Medical University,Luzhou 646000,Sichuan;Department of Laboratory Medicine of Southwest Medical University,Luzhou 646000,Sichuan,China)
出处
《临床检验杂志》
CAS
2024年第2期136-140,共5页
Chinese Journal of Clinical Laboratory Science
基金
四川省科技厅项目(2022YFS0312)
西南医科大学大学生创新创业训练计划项目(S202310632246)。
关键词
染色体异常
不孕不育
核型
chromosome abnormality
infertility
karyotype
