Intra-family phenotypic heterogeneity of 16p11.2 deletion carriers in a three-generation Chinese family.

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This study of a three-generation Chinese family shows how the same 16p11.2 deletion can look very different from person to person—even within the same family—which can help families understand why one child may have autism, intellectual disability, and heart or spine differences while another family member with the identical deletion appears much less affected.