16p11.2 Duplication (Distal)

Below is a summary of 16p11.2 distal duplication syndrome observed in research publications. This is not meant to take the place of medical advice. Learn more about 16p11.2 Distal Duplication and connect with other Simons Searchlight families with the resources below.

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What is 16p11.2 distal duplication syndrome?

Sometimes people are born with extra or missing sections of chromosomes. 16p11.2 distal duplication syndrome happens when someone has an extra 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:

  • Sideways curvature of the spine, also called scoliosis
  • Low weight and small head size
  • Autism
  • Schizophrenia

Do people who have 16p11.2 distal duplication syndrome look different?

People with 16p11.2 distal duplication syndrome might not look different. Those studied so far do not have a specific set of features.

How many people have 16p11.2 distal duplication-related syndrome?

16p11.2 distal duplication syndrome is rare. Doctors and scientists have just recently begun to study it. As of 2022, at least 100 people with a 16p11.2 distal duplication have been described in medical research.


Support Resources


Info Summary

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



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 duplications.


Research Article Summaries

Below, we have summarized research articles about 16p11.2 Distal Duplication. We hope you find this information helpful.

The information available about 16p11.2 Distal Duplication 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 Duplication articles can be found here.


Research Opportunities

Simons Searchlight

Help the Simons Searchlight team learn more about 16p11.2 Distal Duplications 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 duplication families.

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