16p11.2 Deletion (Distal)
Below is a summary of 16p11.2 distal deletion syndrome observed in research publications. This is not meant to take the place of medical advice.
The online Gene Guide includes more information about 16p11.2 distal deletion such as the chance of having another child with this condition, behavior and development concerns linked to 16p11.2 distal deletion or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.
The latest Simons Searchlight report includes updated information on your genetic community and analyzes developmental growth charts based on the Vineland Adaptive Behavior Scales (Vineland-3) survey. This data shows skills at different ages and helps doctors and researchers understand how these skills change over time. Watch our short video to understand the charts better.
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View all reports below by clicking on “Previous Registry Reports” at the bottom of this page.
What is 16p11.2 distal deletion syndrome?
Sometimes people are born with extra or missing sections of chromosomes. 16p11.2 distal deletion syndrome happens when someone has a missing piece of chromosome 16, one of the body’s 46 chromosomes.
On your genetics report, you might see the words distal and proximal. A 16p11.2 distal region is between Break Point 2 (BP2) and Break Point 3 (BP3) of the chromosome. The proximal duplication is between Break Point 4 (BP4) and Break Point 5 (BP5).
Some people may have:
- Developmental delay or intellectual disability
- Speech delay
- Affected communication, social, and learning skills
Research Article Summaries
Previous Registry Reports