17q12 Duplication

Below is a summary for the 17q12 duplication observed in research publications. This is not meant to take the place of medical advice. The full gene guide, which includes more information, coming soon.

What is chromosome 17q12 duplication syndrome?

Chromosome 17q12 duplication syndrome can have variable effects on the development of communication, social, and learning skills. It can affect how a person acts or interacts with others. Many people who have 17q12 duplication syndrome have:

  • Intellectual disability
  • Speech delay
  • Seizures

Do people who have 17q12-duplication syndrome look different?

Some people who have 17q12 duplication syndrome have minor changes in their appearance, such as a flat forehead, a low hairline, thick eyebrows, and thick lips.

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Support Resources

 

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Research Article Summaries

We currently do not have any article summaries for 17q12 Duplication, but we add resources to our website as they become available.

The information available about 17q12 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.

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Research Opportunities

Simons Searchlight

Help the Simons Searchlight team learn more about 17q12 Duplication 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 17q12 Duplication families.

Click here to share your family’s story!