2q37 Deletion
The information for this summary of 2q37 deletion syndrome comes from research publications. This is not meant to take the place of medical advice.
Click here for our full 2q37 Gene Guide
The online Gene Guide includes more information about 2q37 deletions such as the chance of having another child with this condition, behavior and development concerns linked to 2q37 deletion syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.
2q37 deletion syndrome is also called 2q37 microdeletion. For this webpage, we will be using the name 2q37 deletion syndrome to encompass the wide range of variants observed in the people identified.
What is 2q37 deletion syndrome?
2q37 deletion syndrome happens when a person is missing a piece of chromosome 2, 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
The 2q37 deletion region plays a role in brain development.
Symptoms
2q37 deletion syndrome can affect communication, social, and learning skills. People who have 2q37 deletion syndrome may have:
- Obesity
- Developmental delay
- Intellectual disability
- Sleep disturbance
- Self-injury behavior
- Aggression
- Attention-deficit/hyperactivity disorder (ADHD)
- Low muscle tone
- Seizures
- Autism
- Heart issues
- Gastrointestinal problems
- Recurrent ear infections
- Breathing issues
How many people have 2q37 deletion syndrome?
As of 2024, at least 200 people with 2q37 deletion syndrome have been identified in medical research. The first case was found in 1995. Scientists expect to find more people who have the syndrome as access to genetic testing improves.
Learn more about 2q37 deletion syndrome and connect with other Simons Searchlight families with the resources below:
Support Resources
- Simons Searchlight Community – 2q37 Deletion Facebook group
- 2q37 Deletion Rare Chromosome Disorder – Facebook group
- Unique – 2q37 Deletion Guidebook
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 2q37 Deletions.
Research Article Summaries
We currently do not have any article summaries for 2q37 Deletion, but we add resources to our website as they become available.
The information available about 2q37 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 2q37 Deletion articles can be found here.
Research Opportunities
Simons Searchlight
Help the Simons Searchlight team learn more about 2q37 Deletions 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 2q37 Deletion families.
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