Application of copy number variation analysis and chromosome karyotype analysis in children with developmental delay/intellectual disability
Liu Wei
Zhao Liu
Tu Ming
Luo Zhenqing
Shen Fang
Yang Yongjia
Abstract：Objective To investigate the application of copy number variation analysis and chromosome karyotype analysis in children with developmental delay/intellectual disability(DD/ID).Methods Chromosome microarray(CMA)detection was performed in 649 consecutive children with DD/ID in Hunan Children's Hospital.Medical records were reviewed retrospectively.Pathogenicity of detected copy number variations(CNV)was evaluated by referencing previous reports or parental testing using fluorescence in situ hybridization(FISH)and quantitative polymerase chain reaction(q-PCR).Results In 649 children with DD/ID,110 cases were found with pathogenic CNV,and the diagnostic yield was 16.9%,including 100 deletions and 31 duplications of 270 kb-30 Mb.Parental testing was performed in 66 patients,86.4%of which carried de novo CNVs.In eight children,pathogenic CNVs were inherited from healthy parents with a balanced translocation,and genetic counseling was provided to these families.Five rarely reported deletions were verified on 2p21p16.3,3p21.31,10p11.22,14q24.2 and 21q22.13 sites.Conclusions CMA test has clinical practicability in genetic diagnosis of patients with DD/ID.CMA test should be used as a clinical diagnostic test for all children with DD/ID.
Keywords：Chromosomal microarrayCopy number variationDevelopmental delayIntellectual disabilityDiagnostic efficacy
Publication Date：2024-03-15
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：5( 6-10 )