Home > Resources > Maternal Modifiers and Parent-of-Origin Bias of the Autism-Associated 16p11.2 CNV.

Maternal Modifiers and Parent-of-Origin Bias of the Autism-Associated 16p11.2 CNV.

Proximal Deletion, Proximal Duplication,

All,

This study found that when a 16p11.2 deletion arises spontaneously (not inherited), it overwhelmingly comes from the mother's side in nearly 9 out of 10 cases, and that additional genetic changes passed down from mothers may also contribute to the range of outcomes seen in children with 16p11.2, which can help families understand why symptoms vary so widely.

Genetics,