17q12 Deletion
The information for this summary of 17q12 deletion syndrome comes from research publications. This is not meant to take the place of medical advice.
Click here for our full 17q12 deletion gene guide
The online Gene Guide includes more information about 17q12 deletion syndrome such as the chance of having another child with this condition, behavior and development concerns linked to 17q12 deletion syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.
17q12 deletion syndrome is also called 17q12 microdeletion syndrome. For this webpage, we will be using the name 17q12 deletion syndrome to encompass the wide range of variants observed in the people identified.
What is 17q12 deletion syndrome?
17q12 deletion syndrome happens when a person is missing a piece of chromosome 17, one of the body’s 46 chromosomes. Chromosomes are structures in our cells that house our genes. The missing 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 the 17q12 region is important in brain activity, many people who have 17q12 deletion syndrome have:
- Developmental delay
- Intellectual disability
- Autism
- Bipolar disorder
- Seizures
- Heart defects
- Genital defects, in both females and males
- Structural or functional issues of the kidney and urinary tract
- Maturity-onset diabetes of the young type 5 (MODY 5)
- Brain changes seen on magnetic resonance imaging (MRI)
How many people have 17q12
deletion syndrome?
As of 2024, at least 295 people with 17q12 deletion syndrome have been identified in medical research.
Support Resources
- Simons Searchlight Community – 17q12 Deletion Facebook group
- 17q12 Foundation Website – chromo17q12.org
- 17q12 Foundation Facebook page
- Unique – 17q12 Deletion
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 Deletions.
Research Article Summaries
We currently do not have any article summaries for 17q12 Deletion, but we add resources to our website as they become available.
The information available about 17q12 Deletion 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 Deletion 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 Deletion 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 Deletion families.
Click here to share your family’s story!