Defining the effect of the 16p11.2 duplication on cognition, behavior, and medical comorbidities.

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This large international study found that children and adults with the 16p11.2 proximal duplication have, on average, similar reductions in IQ as those with the reciprocal deletion, but with much wider variability—meaning some duplication carriers are more severely affected while others score in the average range—and also tend to have lower BMI and smaller head size, with autism diagnosed in about 20% of cases.