Genomics Inform.  2017 Sep;15(3):82-86. 10.5808/GI.2017.15.3.82.

Chromosomal Microarray Testing in 42 Korean Patients with Unexplained Developmental Delay, Intellectual Disability, Autism Spectrum Disorders, and Multiple Congenital Anomalies

• Lee SH
• Song WJ

• KMID: 2394764
• DOI: http://doi.org/10.5808/GI.2017.15.3.82

Abstract

Chromosomal microarray (CMA) is a high-resolution, high-throughput method of identifying submicroscopic genomic copy number variations (CNVs). CMA has been established as the first-line diagnostic test for individuals with developmental delay (DD), intellectual disability (ID), autism spectrum disorders (ASDs), and multiple congenital anomalies (MCAs). CMA analysis was performed in 42 Korean patients who had been diagnosed with unexplained DD, ID, ASDs, and MCAs. Clinically relevant CNVs were discovered in 28 patients. Variants of unknown significance were detected in 13 patients. The diagnostic yield was high (66.7%). CMA is a superior diagnostic tool compared with conventional karyotyping and fluorescent in situ hybridization.

Keyword

autism spectrum disorder; chromosomal microarray; developmental delay; intellectual disability; multiple congenital anomalies

MeSH Terms

Autism Spectrum Disorder*
Autistic Disorder*
Diagnostic Tests, Routine
Humans
In Situ Hybridization, Fluorescence
Intellectual Disability*
Karyotyping
Methods