CAJ | 학술논문

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3156例生殖异常患者的染色体核型及临床资料。结果 3156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％（53／1625）、2.02％（25／1235）、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。
목적：탐토생식이상여염색체이상적관계。방법회고성분석2008년8월지2014년8월사천성부유보건원취진적3156례생식이상환자적염색체핵형급림상자료。결과 3156례생식이상환자중，검출염색체이상핵형82례，핵형이상솔위2.6％。기중비동원염색체평형역위30례（36.59％）、성염색체수목이상28례（34.15％）、라백손역위12례（14.63％）、기타염색체이상12례（14.63％）。종림상표현간，임신태인주실환자、불잉불육환자、태인기형급출생결함환자염색체이상솔분별위3.26％（53／1625）、2.02％（25／1235）、1.35％（4／296）。결론생식이상여염색체이상유관，대생식이상환자진행염색체검사시필요적。
Objective To discuss the relationship between reproduction abnormality and chromosome abnormity .Methods Chromosome karyotypes and clinical data of 3 156 patients with reproduction abnormalities in Sichuan Provincial Maternity and Child Health Hospital from Aug 2008 to Aug 2014 were retrospectively analyzed .Results Among the 3 156 patients with reproduction abnormalities ,82 cases of abnormal karyotypes were detected , The incidence rate of chromosomal abnormity was 2.6%, 30 cases (36.59%) were the balance of autosomal translocation , 28 cases (34.15%) were sex chromosome aneuploidy , 12 cases (14.63%) were robertsonian translocation , 12 cases ( 14.63%) were other chromosome abnormities .As to the clinical manifestations , the chromosomal abnormity rate of miscarriage , infertility, fetal malformation and birth defect were 3.26% (53/1 625), 2.02% (25/1 235), 1.35% (4/296) respectively.Conclusion Reproductive abnormalities are associated with chromosome abnormities .It is necessary for patients with reproductive abnormalities to take chromosome examination .