571例先天智力低下患儿的细胞遗传学分析  

Study on cytogenetics of 571 children with mental retardation

作　　者：余红[1] 赵矫[1] 陈绍坤[1] 刘岚[1] 

机构地区：[1]泸州医学院医学生物学与遗传学教研室,四川泸州646000

出　　处：《中国妇幼保健》2012年第11期1681-1682,1692,共3页Maternal and Child Health Care of China

摘　　要：目的:探讨先天性智力低下与染色体异常的关系。方法:对先天智力低下患儿进行外周血淋巴细胞培养、G显带染色体核型分析。结果:在571例先天智力低下患儿中,发现染色体异常核型207例,检出率为36.3%,以21三体综合征为主。染色体异常患儿与母亲妊娠年龄、孕前及孕中接触有毒有害物质及居住地区有关。结论:染色体异常是导致先天智力低下的重要原因之一,有效预防染色体病的发生对提高人口素质十分必要。Objective：To analyze the relationship between abnormal chromosome karyotype and mental retardation.Methods：Peripheral blood sample from all mental retardation was collected.Then the chromosomal was analyzed through the culture of peripheral blood lymphocyte and G-dominance band of the chromosome.Results：Totally abnormal chromosome karyotype were showed in 207 cases from 571 cases with mental retardation,the total detection rates of abnormal karyotype was 36.3%.And trisomy 21 syndrome was the main disease in all abnormal chromosome karyotype.Conclusion：The chromosome karyotype abnormality is one of the important reasons of mental retardation.It is necessary for improve the quality of the population which effective in preventing the occurrence of chromosomal disease.

关 键 词：智力低下 染色体异常 细胞遗传学 

分 类 号：R174[医药卫生—妇幼卫生保健]