Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size.

For: All,

This study of 27 families with 16p11.2 deletions and 18 with duplications found that both groups commonly experience speech/language delays and cognitive challenges, with deletion linked to macrocephaly, seizures, and autism, while duplication was linked to microcephaly and ADHD, helping families understand the range of symptoms their child may face.