17q21.31 Duplication

Below is a summary for 17q21.31 duplication syndrome observed in research publications. This is not meant to take the place of medical advice.

What is 17q21.31 duplication syndrome?

17q21.31 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.


Because the 17q21.31 region is important for the proper function the body’s cells, some people may have:

  • Intellectual disability
  • Autism
  • Speech and language delay
  • Learning disability
  • Low muscle tone
  • Developmental delay
  • Schizophrenia
  • Alzheimer’s disease around age 60

Do people who have 17q21.31 duplication syndrome look different?

People with 17q21.31 duplication syndrome do not look that different. Some people may have more body hair than average.

How many people have 17q21.31 duplication syndrome?

As of 2022, about 15 people with 17q21.31 duplication syndrome have been described in medical research. Some people with a 17q21.31 duplication do not have any symptoms, which makes it difficult to know how common this condition is.


Support Resources



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 17q21.31 Duplication.


Research Article Summaries

We currently do not have any article summaries for 17q21.31 Duplication, but we add resources to our website as they become available.

The information available about 17q21.31 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 17q21.31 Duplication articles can be found here.


Research Opportunities

Simons Searchlight

Help the Simons Searchlight team learn more about 17q21.31 Duplication genetic changes by taking part in our research. You can learn more about the project and sign up here.


Family Stories

We do not currently have any stories from 17q21.31 Duplication families.

Click here to share your family’s story!