Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder.

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This study shows that children with proximal 16p11.2 deletions or duplications can have very different individual outcomes—from autism and learning differences to milder or even subtle features—helping families understand why there is no single “look” or path for 16p11.2 and why ongoing, personalized monitoring and supports are more useful than relying on the genetic result alone to predict development or needs.