The Cytoscan HD Array in the Diagnosis of Neurodevelopmental Disorders

Abstract excerpt

Submicroscopic chromosomal copy number variations (CNVs), such as deletions and duplications, account for about 15⁻20% of patients affected with developmental delay, intellectual disability, multiple congenital anomalies, and autism spectrum disorder. Most of CNVs are de novo or inherited rearrangements with clinical relevance, but there are also rare inherited imbalances with unknown significance that make...

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