不孕不育患者性染色体异常发生频率及其生殖遗传效应

The abnormal frequency of sex chromosome in infertility patients and its reproductive genetic effect

目的探讨不孕不育患者中性染色体异常发生频率及其生殖遗传效应。方法对我院1034例不孕不育患者进行细胞遗传学分析,采集外周血,按照常规方法制备染色体标本。G显带,进行众数分析及核型分析并对其妊娠结局进行随访。结果结果共检出性染色异常核型7例,异常发生率为0.7%(7/1034),女性45,X[7]/46,X,del(X)(p10)[43]嵌合病例1例;46,del(X)(q26)病例1例;男性46,X,inv(Y)(p11q12)Y染色体倒位病例3例,47,XXY病例2例;其中妊娠结局,这些性染色异常患者都出现多次流产或难以怀孕的临床表现。结论性染色体异常可导致不孕不育,提示不孕不育与遗传因素密切相关。

Objective：To explore the abnormal frequency of sex chromosome in infertility patients and its reproductive genetic effects. Methods：In our hospital 1034 cases of infertility patients with cytogenetic analysis,collection of peripheral blood,the preparation of chromosome specimen in ccordance with the conventional methods. G banding,the number of modal Analysis and karyotype analysis,follow-up visit of these pregnancy outcome.Results：The abnormal karyotype were detected in 7 cases,the incidence of chromosomal abnormalities is 0.7%,femal 45,X[7]/46,X,del（X）（p10）[43] chimerism 1 case;46,del（X）（q26） 1 case;male 46,X,inv（Y）（p11q12）Y chromosome inversion 3 cases;47,XXY 1 case;about the pregnancy outcome,these patients with abnormal sex chromosome both have multiple miscarriages or being hard to be pregnant.Conclusion：Sex chromosome abnormality can cause infertility,the infertility is closely related to genetic factors.