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.

Click here for our full 16p11.2 distal deletion Gene Guide

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.

Latest Registry Report | Download Report

This latest report includes updated information about Simons Searchlight participants with 16p11.2 distal deletion syndrome using insights by families like yours. This report features a special spotlight on behavioral and emotional concerns in children using results from the Child Behavior Checklist (CBCL).

Please take our surveys to contribute to this research. If you are not yet registered, consider joining Simons Searchlight to be included in future reports!

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).

Key Role

16p11.2 distal deletion syndrome can affect communication, social, and learning skills. There are 9 genes in the recurrent distal deletion. The number of genes deleted can vary from person to person. It is unclear which genes are associated with neurodevelopmental features.

As of 2024, scientists had described fewer than 40 people who have 16p11.2 distal deletion syndrome in the medical literature. The first case was found in 2010. There are likely many more undiagnosed people who have the syndrome. Scientists expect to find more people who have the syndrome as access to genetic testing improves.

Symptoms

Some people may have:

  • Obesity
  • Developmental delay or intellectual disability
  • Speech delay
  • Affected communication, social, and learning skills

How many people have 16p11.2 distal deletion syndrome?

As of 2020, scientists had described fewer than 40 people who have 16p11.2 distal deletion syndrome in the medical literature. The first case was found in 2010. There are likely many more undiagnosed people who have the syndrome. Scientists expect to find more people who have the syndrome as access to genetic testing improves.

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Support Resources

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Info Summary

Download a short summary of the 16p11.2 copy number variant here.

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GeneReviews

GeneReviews are a great resources to bring to your child’s clinicians. These publications provide a summary of current research on genetic conditions and information on ongoing care. There is currently no GeneReviews for 16p11.2 distal deletions.

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Research Article Summaries

Below, we have summarized research articles about 16p11.2 Distal Deletion. We hope you find this information helpful. The information available about 16p11.2 Distal Deletion is limited, and families and doctors share a critical need for more information. As we learn more from children who have a change in this gene, we expect this list of resources and information to grow. Full versions of published research articles can be found on PubMed. PubMed is a National Institutes of Health (NIH) online database that is free. It has a collection of both medical and scientific research articles. A PubMed search for 16p11.2 Distal Deletion articles can be found here.

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Research Opportunities

Simons Searchlight Help the Simons Searchlight team learn more about 16p11.2 Distal Deletions by taking part in our research. You can learn more about the project and sign up here.

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Family Stories

Stories from 16p11.2 distal deletion families:

Click here to share your family’s story!