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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 investigate the frequency of genital abnormalities and its reproductive hereditary effect in infertile patients. Methods A total of 1034 cases of infertility patients in our hospital were analyzed by cytogenetics. Peripheral blood was collected and chromosomes were prepared according to routine methods. G-banding, for the majority analysis and karyotype analysis and follow-up of their pregnancy outcomes. Results Seven cases of abnormal stained karyotypes were detected, the incidence of abnormalities was 0.7% (7/1034), female 45, X7 / 46, X, del (X) (p10) 1 cases; 46 cases of del (X) (q26) cases in 1 case; male 46, X, inv (Y) (p11q12) Y cases of chromosome inversion in 3 cases, 47 cases of XXY cases in 2 cases; Abnormal patients have repeatedly aborted or difficult to pregnancy clinical manifestations. Conclusions Sex chromosome abnormalities can lead to infertility, suggesting that infertility and genetic factors are closely related.