17q12 Duplication

Below is a summary for 17q12 duplication syndrome observed in research publications. This is not meant to take the place of medical advice.

What is chromosome 17q12 duplication syndrome?

17q12 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 17q12 region is important for the proper function of the body’s cells, some people may have:

  • Intellectual disability
  • Developmental delay
  • Seizures
  • Brain changes seen on magnetic resonance imaging (MRI)
  • Autism
  • Schizophrenia
  • Speech delays
  • Aggression
  • Self-injury behavior
  • Low muscle tone
  • Gross motor delay
  • Hormone issues
  • Heart and kidneys issues


Do people who have 17q12 duplication syndrome look different?

People with 17q12 duplication syndrome may look different. Appearance can vary and can include some but not all of these features:

  • Smaller than average head size
  • Eye defects

How many people have 17q12 duplication syndrome?

As of 2021, about 90 people with 17q12 duplication syndrome have been described in medical research. But, the majority of people carrying a 17q12 duplication do not have any symptoms, which makes it difficult to know how common this condition is.


Support Resources



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.

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 17q12 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.


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.

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.


Family Stories

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