16p12.2 Deletion

The information for this summary of 16p12.2 deletion syndrome comes from research publications. This is not meant to take the place of medical advice.

Click here for our full 16p12.2 Deletion Gene Guide

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

16p12.2 deletion syndrome is also called 16p12.2 microdeletion. For this webpage, we will be using the name 16p12.2 deletion syndrome to encompass the wide range of variants observed in the people identified.

What is 16p12.2 deletion syndrome?

16p12.2 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

The 16p12.2 region plays a role in brain development.

Symptoms

Because the 16p12.2 region is important for brain activity, many people who have 16p12.2 deletion syndrome have:

  • Developmental delay
  • Intellectual disability
  • Speech delay
  • Slow growth
  • Behavioral issues, such as autism, bipolar disorder, depression, and schizophrenia
  • Seizures
  • Heart structure changes
  • Sleep issues

How many people have 16p12.2 deletion syndrome?

As of 2024, more than 150 people with 16p12.2 deletion syndrome have been described in medical research.

Learn more about 16p12.2 Deletion and connect with other Simons Searchlight families with the resources below:

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Support Resources

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GeneReviews

GenesReviews 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.

Check out the GeneReviews for 16p12.2 Deletions.

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Research Article Summaries

We currently do not have any article summaries for 16p12.2 Deletion, but we add resources to our website as they become available.

The information available about 16p12.2 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 16p12.2 Deletion articles can be found here.

You can also visit the Simons Foundation’s SFARI Gene website to see information for researchers about this gene.

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Research Opportunities

Simons Searchlight

Help the Simons Searchlight team learn more about 16p12.2 Deletion genetic changes by taking part in our research. You can learn more about the project and sign up here.

External Research Opportunity: FaceMatch

FaceMatch is a platform that helps parents and doctors contribute to an international secure image database of both undiagnosed and diagnosed children across the globe. *This study is not affiliated with Simons Searchlight. Learn more about FaceMatch.

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Family Stories

Stories from 16p12.2 Deletion families:

Click here to share your family’s story!