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7q11.23 Duplication

The information for this summary of 7q11.23 duplication syndrome comes from research publications. This is not meant to take the place of medical advice.

Click here for our full 7q11.23 duplication Gene Guide

The online Gene Guide includes more information about 7q11.23 duplication such as the chance of having another child with this condition, behavior and development concerns linked to 7q11.23 duplication or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.

7q11.23 duplication syndrome is also called 7q11.23 microduplication. For this webpage, we will be using the name 7q11.23 duplication syndrome to encompass the wide range of variants observed in the people identified.

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View all reports below by clicking on “Previous Quarterly Reports” at the bottom of this page.

What is 7q11.23 duplication syndrome?

7q11.23 duplication syndrome happens when a person has an extra piece of chromosome 7, 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 7q11.23 duplication region plays a role in brain development.

Symptoms

7q11.23 duplication syndrome can affect communication, social, and learning skills. People who have 7q11.23 duplication syndrome may have:

  • Distinct facial features
  • Speech delay
  • Behavioral issues, including anxiety, attention-deficit/hyperactivity disorder (ADHD), and autism
  • Developmental delay
  • Intellectual disability
  • Lower than average muscle tone
  • Seizures
  • Heart issues
  • Gastrointestinal issues
  • Vision and hearing issues

How many people have 7q11.23 duplication syndrome?

About 1 in 7,500 to 1 in 20,000 people have 7q11.23 duplication syndrome. The first case was described in 2007. As of 2024, at least 204 people with 7q11.23 duplication syndrome have been identified in medical research.

Learn more about 7q11.23 duplication and connect with other Simons Searchlight families with the resources below.

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Support Resources

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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. Check out the GeneReviews for 7q11.23 Duplication.

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Research Article Summaries

We currently do not have any article summaries for 7q11.23 Duplication, but we add resources to our website as they become available. The information available about 7q11.23 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 7q11.23 Duplication 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 7q11.23 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

Stories from 7q11.23 Duplication families:

Click here to share your family’s story!

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Previous Quarterly Reports