Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.

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This study found that children with agenesis of the corpus callosum (a missing or underdeveloped brain connector) frequently carry rare copy number variants (like deletions and duplications) that overlap with those seen in autism, suggesting shared genetic pathways that may be relevant to 16p11.2 families who often experience both brain differences and autism-related traits.