染色体微阵列分析对智力障碍/发育迟缓患儿病因检测的应用  

Application value of chromosome microarray analysis in the genetic etiology of children with unexplained intellectual disability/developmental delay

作　　者：汤镇川 童光磊[1] 李红[1] 周陶成 徐艳红[1] TANG Zhen-chuan;TONG Guang-lei;LI Hong(Provincial Children's Hospital Affiliated to Anhui Medical University,Hefei 230051,Anhui)

机构地区：[1]安徽医科大学附属省儿童医院,安徽合肥230051

出　　处：《安徽卫生职业技术学院学报》2021年第2期121-124,共4页Journal of Anhui Health Vocational & Technical College

基　　金：安徽省科技厅课题(编号:1804h08020254);安徽省儿童医院中青年优秀科技人才课题(编号:19etyy002)。

摘　　要：目的:探讨染色体微阵列分析对不明原因ID/DD患儿遗传学病因检测的应用价值。方法:收集安徽省儿童医院就诊的不明原因ID/DD患儿共149例,通过染色体微阵列技术对患儿进行拷贝数分析,并整理相关临床资料。结果:在149例患儿中,检测出致病性CNV共36例,阳性率24.2%,临床意义不明CNV共48例,占32.2%,可能致病性CNV有6例,良性CNV28例,可能良性CNV8例,阴性23例。其中有26例属于已知明确的微重复/微缺失综合征,包含2例罕见Kleefstra综合征。结论:CMA作为具有高通量、高分辨的一线分子遗传学的诊断技术,在临床上的诊断率远高于传统细胞遗传学诊断技术,对于所有ID/DD的儿童,应将CMA检测作为第一临床诊断测试。Objective:To explore the application value of chromosome microarray analysis in genetic etiology of children with unexplained ID/DD.Methods:149 children with ID/DD of unknown origin were collected from Anhui children’s hospital.Copy number analysis was performed by chromosome microarray technology,and relevant clinical data were sorted out.Results:Among 149 cases,36 cases of pathogenic CNV were detected,the positive rate was 24.2%.48 cases of CNV with unknown clinical significance accounted for 32.2%.There were 6 cases of possible pathogenic CNV,28 cases of benign CNV,8 cases of possible benign CNV and 23 cases of negative CNV.Among them,26 cases belonged to known microduplication/microdeletion syndrome,including 2 cases of rare kleefstra syndrome.Conclusion:CMA is a high-throughput and high-resolution first-line molecular genetic diagnosis technology,and its clinical diagnostic rate is much higher than that of traditional cytogenetic diagnosis technology.For all children with ID/DD,CMA should be the first clinical diagnostic test.

关 键 词：染色体微阵列分析 ID/DD 微重复/微缺失 病因学 

分 类 号：R749.94[医药卫生—神经病学与精神病学]