Comprehensive genome sequencing analyses identify novel gene mutations and copy number variations associated with infant developmental delay or intellectual disability(DD/ID)

作     者：Yuxia Chen Xiang Tang Ling Liu Qinrong Huang Li Lin Guoing Liu Nong Xiao 

作者机构：Department of Children RehabilitationChildren's Hospital of Chongqing Medical UniversityMinistry of Education Key Laboratory of Child Development and DisordersNational Clinical Research Center for Child Health and DisordersChina International Science and Technology Cooperation Base of Child Development and Critical DisordersChildren's Hospital of Chongqing Medical UniversityChongqing Key Laboratory of Translational Medical Research in Cognitive Development and Learning and Memory DisordersChongqing 400014PR China 

出 版 物：《Genes & Diseases》 (基因与疾病（英文）)

年 卷 期：2022年第9卷第5期

页      面：1166-1169页

核心收录：

学科分类：0710[理学-生物学] 1002[医学-临床医学] 10[医学] 

基　　金：Children's Hospital of Chongqing Medical University 

主　　题：diagnosis clinical infant 

摘      要：To the Editor,Developmental delay or intellectual disability(DD/ID)is one of the most common neurodevelopmental disabilities worldwide with high clinical and genetic heterogeneity.Its etiology remains unexplained in nearly 70%of these patients,and an accurate diagnosis still poses a challenge in clinical practice.Previous DD/ID cohort studies mostly used panel sequencing or chromosome microarray analysis(CMA),but targeted capture probes could not be updated in time,resulting in an increased risk of missed detection of genetic abnormalities.