Analysis of abnormal karyotype and clinical manifestations of 4 157 infertility patients in Southern Sichuan Province
10.13602/j.cnki.jcls.2024.02.12
- VernacularTitle:川南地区4 157例不孕不育患者异常染色体核型及临床表现分析
- Author:
Yang CHENG
1
;
Xing LIU
;
Hui ZHANG
;
Pan ZHOU
;
Qing LUO
;
Xia WEN
;
Jiahong ZHOU
Author Information
1. 西南医科大学附属医院医学检验部,四川泸州 646000
- Keywords:
chromosome abnormality;
infertility;
karyotype
- From:
Chinese Journal of Clinical Laboratory Science
2024;42(2):136-140
- CountryChina
- Language:Chinese
-
Abstract:
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 4 157 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 4 157 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％)of sex chromosome aneuploidy,6 cases(4.38％)of Robertsonian transloca-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.
