Association between microdeletion and microduplication at 16p11.2 and autism.

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This foundational study showed that both a proximal 16p11.2 deletion and a proximal 16p11.2 duplication significantly increase the chance of autism, helping families understand that these genetic findings are well‑established biological risk factors and can be used to validate diagnoses, guide monitoring for related developmental needs, and support advocacy for appropriate services and early interventions.