Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes.
All,
This study shows that both proximal and distal 16p11.2 deletions and duplications can affect shared brain pathways that influence autism features, body weight, and head size, helping families understand why similar challenges can appear across different 16p11.2 diagnoses and use this knowledge to advocate for whole‑child monitoring (development, growth, and learning) rather than focusing on just one genetic change in isolation.