3 156例生殖异常患者的染色体核型异常分析

Analysis of chromosome abnormities in 3 156 patients with reproduction abnormalities

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 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 /1235）,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.