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目的分析罗伯逊易位与临床的关系。方法采用外周血淋巴细胞培养和染色体G显带分析,对2530例在我院接受遗传咨询者进行了染色体分析。结果共检出罗伯逊易位携带者16例,占0.63%,其中以rob(13;14)为常见(7例),其次为rob(14;21)(5例),成年携带者就诊原因多为流产、死胎和不育不孕,而儿童携带者多为发育异常,其中3例为罗伯逊易位21三体型。结论罗伯逊易位与流产、生育21三体型患儿密切相关,其携带者夫妇妊娠时应做产前诊断。
Objective To analyze the relationship between Robertsonian translocation and clinical practice. Methods Chromosome analysis was performed on 2530 cases of genetic counseling in our hospital using peripheral blood lymphocyte culture and chromosome G banding analysis. Results Robertson translocation carriers were detected in 16 cases (0.63%), of which rob (13.14) was common (7 cases), followed by rob (14; 21) (5 cases) Abortion, stillbirth and infertility, and more children carriers are dysplasia, of which three cases of Robertson’s trisomy 21 trisomy. Conclusions Robertsonian translocation is closely related to the abortion and birth trisomy 21, and the carriers should carry out prenatal diagnosis during pregnancy.