17p11.2 Duplication

Below is a summary for the 17p11.2 Duplication observed in research publications. This is not meant to take the place of medical advice. Click HERE for the full gene guide, which includes more information, such as chance of having another child with this condition, or specialists to consider for people with this condition.

What is 17p11.2 Duplication Syndrome or Potocki-Lupuski Syndrome?

Potocki-Lupski syndrome affects communication, social, and learning skills. Potocki-Lupski syndrome is also known as 17p11.2 duplication syndrome.

Symptoms

People who have Potocki-Lupski syndrome may have:

    • Developmental delay
    • Intellectual disability
    • Attention issues
    • Autism
    • Low muscle tone
    • Difficulty swallowing
    • Failure to thrive
    • Heart issues

 

Do people who have 17p11.2-duplication syndrome look different?

People who have Potocki-Lupski syndrome may have slight changes in their facial features.

How many people have Potocki- Lupski syndrome?

About 1 in 25,000 people have Potocki-Lupski syndrome. The first case was found in 2007. There are likely many more undiagnosed people who have the syndrome. Scientists expect to find more people who have the syndrome as access to genetic testing improves.

SPEECH

Almost everyone who has the syndrome has speech delay. Speech skills may improve with age and speech therapy.

LEARNING

Most people have moderate intellectual disability.

BEHAVIOR

Attention issues, hyperactivity, and anxiety are common. Some people who have the syndrome have autism. One small study estimated that about 60 percent of people have autism.

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Support Resources

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Research Article Summaries

We currently do not have any article summaries for 17q11.2 Duplication, but we add resources to our website as they become available.   The information available about 17q11.2 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.

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

Original research article by B. Isidor et al. (2016).

Read the abstract here and read the Simons Searchlight summary here.

 

De novo mutations in CHAMP1 cause intellectual disability with severe speech impairment

Original research article by M. Hempel et al. (2015).

Read the article here and read the Simons Searchlight summary here.

 

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Research Opportunities

Simons Searchlight

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

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Family Stories

We do not currently have any stories from 17q11.2 Duplication families.

Click here to share your family’s story!