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-  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 Korea

DOI: 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

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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)

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