16p11.2 Duplication (Distal)

The information for this summary of 16p11.2 distal duplication syndrome comes from research publications. This is not meant to take the place of medical advice.

Click here for our full 16p11.2 Distal Duplication Gene Guide

The online Gene Guide includes more information about 16p11.2 distal duplication such as the chance of having another child with this condition, behavior and development concerns linked to 16p11.2 distal duplication or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.

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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. The 16p11.2 distal region is between Break Point 2 (BP2) and Break Point 3 (BP3) of the chromosome. The proximal region is between Break Point 4 (BP4) and Break Point 5 (BP5).

Key Role

Genes within the 16p11.2 distal region are important for brain development and function.

Symptoms

Because the 16p11.2 distal region is important for the proper function of the brain, some people with 16p11.2 distal duplication syndrome may have:

Autism
Language delay
Developmental delay
Intellectual disability
Anxiety
Attention-deficit/hyperactivity disorder (ADHD)
Schizophrenia
Low weight and a small head size
Sideways curve of the spine, also called scoliosis

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

As of 2025, over 100 people with 16p11.2 distal duplication syndrome have been identified in medical research.

Support Resources

Simons Searchlight Community – 16p11.2 Duplication 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 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.