Chromosomal Microarray With Clinical Diagnostic Utility in Children With Developmental Delay or Intellectual Disability.

Jin Sook LeeHee HwangSoo Yeon KimKi Joong KimJin Sun ChoiMi Jung WooYoung Min ChoiJong Kwan JunByung Chan LimJong Hee Chae

Published in: Annals of laboratory medicine (2018)

This study demonstrated the clinical utility of CMA testing in the genetic diagnosis of patients with developmental delay or intellectual disability. CMA testing should be included as a clinical diagnostic test for all children with developmental delay or intellectual disability.

Keyphrases

intellectual disability
autism spectrum disorder
young adults
copy number
gene expression
bioinformatics analysis