Deletion 16p13.11 uncovers NDE1 mutations on the non-deleted homolog and extends the spectrum of severe microcephaly to include fetal brain disruption.

For: All,

This study examines deletions in a different region of chromosome 16 (16p13.11, not 16p11.2) and finds that when combined with a mutation in the NDE1 gene on the other copy of chromosome 16, children can develop severe microcephaly (very small brain/head) and brain structural problems, which may be useful background reading for families interested in how different 16p deletions interact with other gene mutations.