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Chromosomal Microarray Analysis in Autism Spectrum Disorder: Diagnostic Yield, Deletion/Duplication Syndromes, and Clinical Utility
By Sanabria FMl.
Abstract
Background
Autism spectrum disorder (ASD) is clinically and etiologically heterogeneous. Chromosomal microarray analysis (CMA) detects copy-number variants (CNVs), but diagnostic yield varies markedly with phenotype.
Objective
To assess CMA diagnostic yield in ASD, identify clinical features associated with higher yield, review recurrent clinically relevant CNVs, and distinguish diagnostic yield from downstream clinical utility.