17q12 Duplication
The information for this summary of 17q12 duplication syndrome comes from research publications. This is not meant to take the place of medical advice.
Click here for our full 17q12 Duplication Gene Guide
The online Gene Guide includes more information about 17q12 duplication such as the chance of having another child with this condition, behavior and development concerns linked to 17q12 duplication or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.
17q12 duplication syndrome is also called 17q12 microduplication. For this webpage, we will be using the name 17q12 duplication syndrome to encompass the wide range of variants observed in the people identified.
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What is 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.
Key Role
Genes within the 17q12 region are important for brain development and function.
Symptoms
Because genes in the 17q12 region are important in brain development and function, many people who have 17q12 duplication syndrome have:
- Developmental delay
- Intellectual disability
- 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
How many people have 17q12 duplication syndrome?
As of 2025, over 90 people with 17q12 duplication syndrome have been described in medical research. But, most people who carry a 17q12 duplication do not have any symptoms, making it difficult to know how common this condition is.
Support Resources
- Simons Searchlight Community – 17q12 Duplication Facebook group
- 17q12 Foundation Website – chromo17q12.org
– 17q12 Foundation – Facebook page - Unique – 17q12 Duplication
GeneReviews
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.
Check out the GeneReviews for 17q12 Duplications.
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
We do not currently have any stories from 17q12 Duplication families.
Click here to share your family’s story!