2021•PubMedRequires access

[The diagnostic value of chromosome microarray analysis technique in the genetic causes of children with intellectual disability or global developmental delay].

H R Wu, L Li, Y N, C L Liu, P Pei, Xuefei Zheng, S T Wang, Y Xiao, Ding-fang Bu, Ying Xu, Hong Pan, Yingnan QI

Abstract

CMA has the advantages of high resolution and covering the whole genome. It can detect the chromosomal abnormalities, microdeletions and duplications seen under the microscope, thus the genetic etiology of children with mental retardation or global DD can be diagnosed.

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Available abstract

Key concepts: Copy-number variation, Intellectual disability, Uniparental disomy, Comparative genomic hybridization, SNP array, Genetics, Epilepsy, Etiology