The Phenotypic variability of 16p11.2 distal BP2-BP3 deletion in a transgenerational family and in neurodevelopmentally ascertained samples.

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This study shows that even within the same family, the distal 16p11.2 deletion (BP2-BP3) can cause very different outcomes—ranging from autism and obesity to motor difficulties—helping families understand why siblings or parents with the same deletion may look very different from one another.