453. Diffusion Tensor Imaging White Matter Abnormalities Associated With Copy Number Variants: A Normative Modeling Approach

Biological Psychiatry(2023)

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摘要
Copy Number Variants (CNV) such as 16p11.2 deletion (16pDel) and duplication (16pDup), 1q21.1 deletion (1qDel) and duplication (1qDup) are associated with neurodevelopmental disorders. Prior studies have reported altered fractional anisotropy (FA) in the brain’s white matter (WM) in both 16p11.2 CNVs, but small samples and lack of norms did not allow to investigate age related CNV effects. We analyze FA in the WM of CNV carriers using a normative modeling (NM) framework enabling the mapping of individual differences with respect to a reference model.
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关键词
copy number variants, 16p11.2, 1q21.1, Normative Modeling
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