16p11.2 Deletion (Distal)

Learn more about 16p11.2 Distal Deletion and connect with other Simons Searchlight families with the resources below. 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.

LATEST REGISTRY REPORT
Download the latest quarterly report here. The goal of this report is to share up-to-date data contributed by families. Building off the last report, the team used the Quality of Life Inventory to ask caregivers to describe how their family member with 16p11.2 Deletion (Distal) responds to life experiences. This survey and other important tasks are located on your dashboard. Participating in surveys is very important to the longevity of our study. Your unique experience could hold the clues that scientists need to find answers for you and others with rare genetic disorders. If you want to be included in future reports, join Simons Searchlight today!

To view past registry reports go to the bottom of this page and click on the dropdown menu tab labeled “Previous Registry Reports.”


VOICE OF THE COMMUNITY REPORT
Download the Voice of the Community report here. The Simons Searchlight team is happy to share the results from a special survey called The Simons Searchlight Voice of the Community. The results include specific data and information about your community. We extend a big thank you to everyone who contributed their unique information and insight. We couldn’t have done this without you.

What is 16p11.2 distal deletion syndrome?

16p11.2 distal deletion syndrome is rare, described in fewer than 40 people to date. Doctors and scientists have just recently begun to study it. 16p11.2 distal deletion syndrome can affect communication, social, and learning skills. People with 16p11.2 distal deletion syndrome may have:

  • Obesity
  • Developmental delay or intellectual disability
  • Speech delay

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.

People with 16p11.2 distal deletions are missing a section of one of their two chromosome 16s.

People with 16p11.2 distal deletions appear to have an increased risk for development problems, which may or may not include autism. The information available about 16p11.2 distal deletions is limited, and families and doctors share a critical need for more information. Simons Searchlight participants help doctors and scientists find new information about the effects of 16p11.2 distal deletions.

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.

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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

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

Click here to share your family’s story!