|
- 2019
Chromosomal Microarray Analysis as a First-Tier Clinical Diagnostic Test in Patients With Developmental Delay/Intellectual Disability, Autism Spectrum Disorders, and Multiple Congenital Anomalies: A Prospective Multicenter Study in KoreaDOI: 10.3343/alm.2019.39.3.299 Keywords: Chromosomal microarray analysis, Pathogenic, Variant of possible significance, Variant of unknown significance, Benign, Clinical management, Developmental delay, Intellectual disability, Autism spectrum disorders, Multiple congenital anomalies Abstract: To validate the clinical application of chromosomal microarray analysis (CMA) as a first-tier clinical diagnostic test and to determine the impact of CMA results on patient clinical management, we conducted a multicenter prospective study in Korean patients diagnosed as having developmental delay/intellectual disability (DD/ID), autism spectrum disorders (ASD), and multiple congenital anomalies (MCA)
|