16p11.2 Duplication

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

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

The online Gene Guide includes more information about 16p11.2 duplication such as the chance of having another child with this condition, behavior and development concerns linked to 16p11.2 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 duplication syndrome?

16p11.2 duplication syndrome happens when a person has an extra piece of chromosome 16, one of the body’s 46 chromosomes. Chromosomes are structures in our cells that house our genes. The extra piece can affect learning and how the body develops.

Key Role

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

Symptoms

Because genes in the 16p11.2 region are important in brain development and function, many people who have 16p11.2 duplication syndrome have:

  • Autism
  • Developmental delay or intellectual disability
  • Constipation
  • Low muscle tone
  • Anxiety

How many people have 16p11.2 duplication syndrome?

As of 2024, at least 153 people with 16p11.2 duplication syndrome have been identified in a medical clinic.

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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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Guidebook

Download a copy of the Simons Searchlight 16p11.2 Duplication Guidebook here.

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Genetic Information

What genes are involved in a typical 16p11.2 duplication? In a typical duplication, a person will have an extra copy of the genes listed below. Some duplications may involve more genes than the ones listed here. Other duplications may include fewer. The information below is intended to give you an overview of how we think about genes and the resulting problems that can happen when a duplication causes there to be extra genetic information. If you have questions about your duplication, you can always ask your genetic counselor about the genes in your duplication.

  • SPN – Important in immune function.
  • QPRT – Involved in some neurodegenerative conditions.
  • KIF22 – Important for copying DNA correctly.
  • MAZ – Important for copying DNA correctly.
  • PRRT2 – Important in early brain development.
  • MVP – May be involved in how the body metabolizes drugs; interacts with PTEN gene.
  • CDIPT – Important for delivering messages within and between cells.
  • KCTD13 – Important for copying DNA correctly; may be related to muscle issues.
  • TAOK2 – Important for delivering messages within and between cells.
  • HIRIP3 – Important in chromatin remodeling, which prepares DNA to be used, read, or copied.
  • FAM57B – May be involved in creating fat cells.
  • ALDOA – Causes glycogen storage disease type XII. People with duplications often do not have the disease but are carriers for it.
  • PPP4C – Important in fixing errors in DNA that develop over time.
  • YPEL3 – Important for copying DNA correctly.
  • MAPK3 – Important for sending visual messages from the eye to the brain.
  • CORO1A – Important in maintaining healthy immune system.
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GeneReviews

Gene Reviews 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. 16p11.2 Duplication is mentioned in the GeneReviews below as a genetically related disorder. Check out the GeneReview for 16p11.2 Deletion.

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Research Article Summaries

Below, we have summarized research articles about 16p11.2 Duplication. We hope you find this information helpful. The information available about 16p11.2 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 Duplication articles can be found here.

  • Defining the effect of 16p11.2 duplication on cognition, behavior, and medical comorbidities Original research article by Debra D’Angelo et al. (2015). Read the abstract here and the Simons Searchlight summary here.
  • Opposing brain differences in 16p11.2 deletion and duplication carriers Original research article by A.Y. Qerishi et al. (2014). Read the abstract here and the Simons Searchlight summary here.
  • Deletion and duplication of 16p11.2 are associated with opposing effects on visual evoked potential amplitude Original research article by J.J. LeBlanc and C.A. Nelson (2016). Read the abstract here and the Simons Searchlight summary here.
  • Additional research articles:
    • Bedoyan et al. (2010) Describes in detail a child with a seizure disorder who also has a 16p11.2 duplication.
    • Fernandez et al. (2010) Detailed description of three people with 16p11.2 duplications.
    • Rosenfeld et al. (2010) Describes common features in 10 people with 16p11.2 duplications. Also indicates whether or not the duplications were inherited and what features were seen in parents who passed a duplication on to their child.
    • Schaaf et al. (2010) Examines a possible link between 16p11.2 duplications and spinal cord cysts (syringomyelia).
    • Shinawi et al. (2010) Discusses features commonly seen in 10 people with 16p11.2 duplications, as well as indicating whether the duplication was inherited from a parent.
    • McCarthy et al. (2009) Summarizes the results of a study that found an increased risk for schizophrenia in people with 16p11.2 duplications. Also describes other features seen in these people.
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Research Opportunities

Simons Searchlight Help the Simons Searchlight team learn more about 16p11.2 Duplications by taking part in our research. You can learn more about the project and sign up here.

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Family Stories

Stories from  16p11.2 Duplication  families:

Click here to share your family’s story!

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