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Chunk #5 — MATERIALS AND METHODS — Cases

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An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.
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This study adhered to guidelines set by the Institutional Review Boards at the participating laboratories. CMA was performed in a subset of clinical ISCA laboratories on cases referred for diagnostic testing with various indications, including: unexplained developmental delay (DD), intellectual disability (ID), dysmorphic features, multiple congenital anomalies (MCA), autism spectrum disorders (ASD) or clinical features suggestive of a chromosomal syndrome. Anonymized data from 15,749 cases were included.