Application of chromosome microarray analysis in patients with unexplained developmental delay/intellectual disability in South China.

Affiliation

Southern Medical University, Guangzhou, 510515, Guangdong, China; Department of Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, 510623, Guangdong, China. Electronic address: [Email]

Abstract

Chromosome microarray analysis (CMA) is currently the first-tier diagnostic assay for the evaluation of developmental delay (DD) and intellectual disability (ID) with unknown etiology. Here, we present our clinical experience in implementing whole-genome high-resolution single nucleotide polymorphism (SNP) arrays to investigate 489 patients with unexplained DD/ID in whom standard karyotyping analyses showed normal karyotypes. This study aimed to assess the usefulness of CMA for clinical diagnostic testing in the Chinese population.

Keywords

CNVs,chromosome microarray analysis,developmental delay,intellectual disability,microdeletion/microduplication,

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