Diagnostic Utility of Chromosomal Microarray Analysis in a Turkish Pediatric Cohort: Insights from 1,022 Patients with Neurodevelopmental Disorders and Congenital Anomalies.

Abstract excerpt

BACKGROUND: Chromosomal microarray analysis (CMA) is a first-tier diagnostic test for children with unexplained developmental and/or congenital anomalies. This study aimed to evaluate the diagnostic contribution of CMA in a large, phenotypically diverse Turkish pediatric cohort. METHODS: CMA was performed in 1,022 children presenting with developmental delay, intellectual disability, autism spectrum disorder,...

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