男性不育症与染色体异常和Y染色体微缺失的临床分析

Clinical analysis of male infertility and chromosomal abnormalities and Y chromosome microdeletions

目的探讨男性不育症与染色体异常和Y染色体微缺失的相关性。方法 2017年1月-2018年12月在我院就诊的412例诊断为不育症男性患者进行外周血染色体核型和Y染色体微缺失检查。结果 412例男性不育症患者共检出异常染色体核型34例,异常率8.25%,主要表现为染色体多态性和平衡易位,其中:①染色体多态性32例,占94.12%;②染色体平衡易位2例,占5.88%。412例男性不育症患者共检出Y染色体微缺失26例,发生率6.31%,其中AZFa区缺失4例,AZFb区缺失6例,AZFc区缺失12例,AZFd区缺失1例,AZFa+AZFc区缺失1例,AZFb+AZFc区缺失1例,AZFa+AZFb+AZFc区缺失1例。结论染色体异常和Y染色体微缺失在男性不育症患者发生率较高,作为常规检查有助于明确其遗传学病因,为遗传咨询提供科学依据。

Objective:To investigate the relationship between male infertility and chromosomal abnormalities and Y chromosome microdeletions.Methods:From January 2017 to December 2018,412 male patients diagnosed with infertility were enrolled in our hospital for peripheral blood karyotype and Y chromosome microdeletion.Results:A total of 34 abnormal karyotypes were detected in 412 male infertility patients.The abnormal rate was 8.25%,which was mainly characterized by chromosomal polymorphism and balanced translocation.Among them,1 chromosome polymorphism was 32 cases,accounting for 94.12%;There were 2 cases of chromosomal translocation,accounting for 5.88%.A total of 26 cases of Y chromosome microdeletions were detected in 412 male infertility patients,the incidence rate was 6.31%,including 4 cases of AZFa deletion,6 cases of AZFb deletion,12 cases of AZFc deletion,1 case of AZFd deletion,AZFa+AZFc 1 case was missing,1 case was deleted in AZFb+AZFc region,and 1 case was deleted in AZFa+AZFb+AZFc region.Conclusion:Chromosomal abnormalities and Y chromosome microdeletions have a high incidence in male infertility patients.As a routine examination,it helps to clarify the genetic causes and provide a scientific basis for genetic counseling.