240例唐氏综合征患儿细胞遗传学分析  

Cytogenetic analysis of 240 children with Down syndrome

作　　者：张恒 ZHANG Heng(Department of Pharmacy,Affiliated Hospital of North Sichuan Medical College,Sichuan Province,Nanchong 637000,China)

机构地区：[1]川北医学院附属医院药剂科,四川南充637000

出　　处：《妇儿健康导刊》2023年第20期76-78,共3页JOURNAL OF WOMEN AND CHILDREN'S HEALTH GUIDE

摘　　要：目的分析240例唐氏综合征(DS)患儿的细胞遗传学特点,探讨DS与父母亲生育年龄的关系和临床特征。方法选取2014年6月至2019年12月川北医学院附属医院收治的240例DS患儿为研究对象,并选取同期180名染色体核型正常儿的父母作为对照组。取外周血淋巴细胞常规培养制备染色体标本,采用G显带技术进行染色体核型分析。结果患儿染色体核型中,标准型占比92.50%,易位型占比4.17%,嵌合型占比3.33%。三种染色体核型患儿的母亲生育年龄与对照组比较,差异有统计学意义(P<0.05)。DS患儿父母中务农、1胎家庭占比最高,其中52.08%的患儿父母认为接触过有害物。DS常见并发症为先天性心脏病,其次为呼吸系统疾病、血液系统疾病、男性隐睾或尿道下裂等。结论DS患儿的染色体核型中标准型占比最多,DS与母亲生育年龄、父母职业、胎次等具有一定相关性,且容易出现先天性心脏病等并发症。Objective To analyze the cytogenetic characteristics of 240 children with Down syndrome(DS),explore the relationship between DS and parents’reproductive age,and investigate the clinical characteristics of DS.Methods A total of 240 children with DS in Affiliated Hospital of North Sichuan Medical College from June 2014 to December 2019 were selected as the subjects of the study.At the same time,the parents of 180 normal children were selected as the control group.Peripheral blood lymphocytes were cultured to prepare the chromosome specimens,and chromosome karyotype was analyzed by G-banding technique.Results In the chromosome karyotypes of the children,standard type accounted for 92.50%,translocational type accounted for 4.17%,and chimeric type accounted for 3.33%.Compared with the control group,there was statistically significant difference in the maternal reproductive age of children with the three cytogenetics karyotypes(P<0.05).Among the parents of DS children,farming and one-child families accounted for the highest proportion,of whom 52.08%believed that they had been exposed to harmful substances.The common complication of DS was congenital heart disease,followed by respiratory system disease,blood system disease,male cryptorchidism or hypospadias,etc.Conclusion The standard type accounts for the largest proportion of chromosome karyotypes in children with DS,DS has a correlation with maternal reproductive age,parental occupation and number of births,which is prone to complications such as congenital heart disease.

关 键 词：唐氏综合征 细胞遗传学 染色体核型 并发症 

分 类 号：R725.9[医药卫生—儿科]