2q37 Deletion

Below is a summary for 2q37 Deletions observed in research publications. This is not meant to take the place of medical advice.

What is 2q37 deletion syndrome?

2q37 deletion syndrome can affect communication, social, and learning skills. People who have 2q37 deletion syndrome may have:

- Developmental delay
- Language delay
- Autism or features of autism, including repetitive behavior, delayed social skills, and poor eye contact
- Other behavior issues, including hyperactivity and aggressive behavior
- Low muscle tone, also known as hypotonia
- Obesity
- Changes in facial features
- Short third, fourth, and fifth fingers

What causes 2q37 deletion syndrome?

2q37 deletion syndrome happens when someone is missing a piece of chromosome 2, one of the body’s 46 chromosomes. Chromosomes are structures in our cells that house our genes.

Some people inherit a genetic change from a parent. In other people, small mistakes can occur when genes are being copied. Parts of the chromosomes can break off, make extra copies, or end up in a different order than expected. When this happens, it is called a “de novo”, or new, change. The child can be the first in the family to have the genetic change.

Do all people with 2q37 deletion syndrome have symptoms?

Not necessarily. Some people do not have any symptoms. Some people may not learn that they have this genetic change until it is found in their children.

How many people have 2q37 deletion syndrome?

As of 2020, doctors had found more than 100 people who have 2q37 deletion syndrome. The first case was found in 1995. There are likely many more undiagnosed people who have the syndrome. Scientists expect to find more people who have the syndrome as access to genetic testing improves.

Do people with 2q37 deletion syndrome look different?

People who have 2q37 deletion syndrome may look different. Appearance can vary and can include some but not all of these features:

Broad, round face
Thin upper lip
Protruding forehead
Arched eyebrows
Short height
Short third, fourth, and fifth fingers, also known as brachydactyly type E

Behavior

Nearly one-third of people have autism or features of autism. Some have hyperactivity or aggressive behavior.

Learning

More than three-quarters of people who have the syndrome have mild to moderate developmental delay and may require special educational support.

Brain

About one-sixth have seizures.

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

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