Coexistence of 9p Deletion Syndrome and Autism Spectrum Disorder.

Doctors wrote up one five-year-old boy who had both autism and 9p deletion syndrome.

They listed his face shape, growth, and behavior clues so others can spot the pattern.

The boy carried a missing piece of chromosome 9.

His autism symptoms sat on top of the syndrome’s own delays and facial signs.

Andrews et al. (2024) counted orthopedic problems in Rett girls; like 9p, Rett is a rare gene change that can look like autism, so both papers tell you to think beyond the ASD label.

Jutla et al. (2024) and Al-Jawahiri et al. (2019) studied 16p11.2 carriers. They show how different missing or extra chunks of DNA give different motor or brain-wave profiles; Serkan’s case adds 9p to that growing map.

Curran et al. (2025) also used a single case, but focused on infant Rett signs. Together the two case studies say: when development feels off plus autism is present, check for rare genetics even if the child is very young.

If a preschooler on your caseload has odd facial features, slow growth, and autism, push the pediatrician for chromosomal testing. Finding 9p deletion changes the medical watch list and gives the family a real reason for the delays. Meanwhile, you can keep teaching play and communication skills just as you always do, but now with a clearer roadmap for medical follow-ups.