16p13.11 Deletion

The information for this summary of 16p13.11 deletion syndrome comes from research publications. This is not meant to take the place of medical advice.

Click here for our full 16p13.11 Deletion Gene Guide

The online gene guide includes more information about 16p13.11 deletion such as the chance of having another child with this condition, behavior and development concerns linked to 16p13.11 deletion or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.

16p13.11 deletion syndrome is also called 16p13.11 microdeletion syndrome. For this webpage, we will be using the name 16p13.11 deletion syndrome to encompass the wide range of variants observed in the people identified.

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What is 16p13.11 deletion syndrome?

16p13.11 deletion syndrome happens when a person is missing a piece of chromosome 16, one of the body’s 46 chromosomes. Chromosomes are structures in our cells that house our genes. The missing piece can affect learning and how the body develops.

Key Role

Genes within the 16p13.11 region are important for brain development and function.

Symptoms

Because the 16p13.11 region is important in brain activity, many people who have 16p13.11 deletion syndrome have:

Developmental delay
Intellectual disability
Poor or absent speech
Seizures
Motor coordination challenges
Autism

How many people have 16p13.11 deletion syndrome?

As of 2024, at least 82 people with 16p13.11 deletion syndrome have been identified in medical research.

Support Resources

Simons Searchlight Community – 16p13.11 Deletion Facebook group
Unique – 16p13.11 Deletion Guidebook

GeneReviews

GeneReviews are a great resource 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 16p13.11 Deletions.

Research Article Summaries

We currently do not have any article summaries for 16p13.11 Deletion, but we add resources to our website as they become available.

The information available about 16p13.11 Deletion is limited, and families and doctors share a critical need for more information. As we learn more from children who have this gene change, we expect our 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 16p13.11 Deletion articles can be found here.

Research Opportunities

Simons Searchlight

Help the Simons Searchlight team learn more about 16p13.11 deletions by taking part in our research. You can learn more about the project and sign up here.