17p13.3 Duplication

The information for this summary of 17p13.3 duplication syndrome comes from research publications. This is not meant to take the place of medical advice.

Click here for our full 17p13.3 Duplication Gene Guide

The online Gene Guide includes more information about 17p13.3 duplications such as the chance of having another child with this condition, behavior and development concerns linked to 17p13.3 duplication syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.

17p13.3 duplication syndrome is also called 17p13.3 microduplication, or split-hand/foot malformation with long bone deficiency 3. For this webpage, we will be using the name 17p13.3 duplication syndrome to encompass the wide range of variants observed in the people identified.

What is 17p13.3 duplication syndrome?

17p13.3 duplication syndrome happens when a person has an extra piece of chromosome 17, 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

The 17p13.3 region plays a role in brain development.

Symptoms

17p13.3 duplication syndrome can affect communication, social, and learning skills. People who have 17p13.3 duplication syndrome may have:

  • Developmental delay
  • Intellectual disability
  • Low muscle tone
  • Autism
  • Brain changes observed on magnetic resonance imaging (MRI)
  • Intrauterine growth restriction
  • Subtle hand/foot defects

How many people have 17p13.3 duplication syndrome?

As of 2024, at least 50 people with 17p13.3 duplication syndrome have been identified in medical research. The first case was found in 2009. Scientists expect to find more people who have the syndrome as access to genetic testing improves.

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Support Resources

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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 17p13.3 Duplication.

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Research Article Summaries

We currently do not have any article summaries for 17p13.3 Duplication, but we add resources to our website as they become available.

The information available about 17p13.3 Duplication 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 17p13.3 Duplication articles can be found here.

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Research Opportunities

Simons Searchlight

Help the Simons Searchlight team learn more about 17p13.3 Duplication 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

We do not currently have any stories from 17p13.3 Duplication families.

Click here to share your family’s story!