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目的探讨生殖异常与染色体异常的关系。方法回顾性分析2008年8月至2014年8月四川省妇幼保健院就诊的3 156例生殖异常患者的染色体核型及临床资料。结果 3 156例生殖异常患者中,检出染色体异常核型82例,核型异常率为2.6%。其中非同源染色体平衡易位30例(36.59%)、性染色体数目异常28例(34.15%)、罗伯逊易位12例(14.63%)、其他染色体异常12例(14.63%)。从临床表现看,妊娠胎儿丢失患者、不孕不育患者、胎儿畸形及出生缺陷患者染色体异常率分别为3.26%(53/1 625)、2.02%(25/1 235)、1.35%(4/296)。结论生殖异常与染色体异常有关,对生殖异常患者进行染色体检查是必要的。
Objective To investigate the relationship between genital abnormalities and chromosomal abnormalities. Methods The chromosomal karyotypes and clinical data of 3 156 cases of genital abnormalities treated in MCH from August 2008 to August 2014 were retrospectively analyzed. Results Among 3 156 cases of genital abnormalities, 82 cases of chromosomal aberration karyotype were detected, and the abnormal karyotype rate was 2.6%. There were 30 cases (36.59%) with non-homologous chromosome translocation, 28 cases (34.15%) with abnormal sex chromosome number, 12 cases (14.63%) with Robertsonian translocation and 12 cases (14.63%) with other chromosomal abnormalities. From the clinical manifestations, the abnormalities of chromosomal abnormalities in patients with fetal loss and infertility, fetal malformations and birth defects were 3.26% (53/1 625), 2.02% (25/1 235) and 1.35% (4 / 296). Conclusion Reproductive abnormalities are related to chromosomal abnormalities. It is necessary to carry out chromosome examination in patients with genital abnormalities.