Brain MR imaging findings and associated outcomes in carriers of the reciprocal copy number variation at 16p11.2.
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This brain MRI study found that children and adults with 16p11.2 deletions are more likely to have structural brain differences such as a thicker corpus callosum and Chiari malformations, while those with duplications tend to have a thinner corpus callosum and reduced white matter, and these brain differences were linked to lower IQ scores and challenges with communication, daily living, and social skills—helping families understand why brain imaging may be a useful tool for guiding support and interventions.