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Phenotypic shift in copy number variants: Evidence in 16p11.2 duplication syndrome.

Proximal Duplication,

All,

This study found that having a 16p11.2 duplication significantly lowers IQ and social functioning compared to unaffected family members, but that a child's family background also plays a major role in how the duplication affects them—information that can help families and doctors better anticipate and plan for a child's needs early on.

Cognitive Impact, Developmental Delay, Genetics, Psych,