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 the full gene guide, which includes more information, such as chance of having another child with this condition, or specialists to consider for people with this condition.

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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).

Symptoms

Some people may have:

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

Do all people who have 16p11.2 distal deletion syndrome have symptoms?

Not necessarily. Some people do not have any symptoms. Some people may not learn that they have this genetic change until it is found in their children.

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.

Learning

6 out of 6 had a developmental delay or intellectual disability.

Behavior

2 out of 6 had autism. 2 out of 6 had behavior issues or attention deficit hyperactivity disorder, also called ADHD.

Growth

4 out of 6 people were overweight, in the 95th percentile or above for body mass index, a measure of weight versus height.

Support Resources

Simons Searchlight Community – 16p11.2 Deletion DISTAL Facebook group

Info Summary

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

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.

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.

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.

Family Stories

We do not currently have any stories from 16p11.2 distal deletion families.

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Previous Registry Reports