6q16 Deletion
The information for this summary of 6q16 deletion syndrome comes from research publications. This is not meant to take the place of medical advice.
Click here for our full 6q16 Deletion Gene Guide
The online Gene Guide includes more information about 6q16 Deletion such as the chance of having another child with this condition, behavior and development concerns linked to 6q16 deletion syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.
6q16 deletion syndrome is also called 6q16 microdeletion syndrome. For this webpage, we will be using the name 6q16 deletion syndrome to encompass the wide range of variants observed in the people identified.
What is 6q16 deletion syndrome?
6q16 deletion syndrome happens when a person is missing a piece of chromosome 6, 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 6q16 region plays a role in brain development.
Symptoms
Because the 6q16 region is important for brain activity, many people who have 6q16 deletion syndrome have:
- Developmental delay
- Learning difficulties
- Behavioral issues, including hyperactivity and features of autism
- Excessive hunger and obesity that begins early in life
- Low muscle tone
- Changes in appearance
- Heart conditions
- Kidney disorders
- Eye issues
How many people have 6q16 deletion syndrome?
As of 2024, over 40 people with 6q16 deletion syndrome have been identified in medical research. The important genes that cause 6q16 deletion syndrome have not been confirmed, and some of the medical literature has estimated the number of people with 6q16 deletion, if you include all the various deletion sizes, to be over 200 people. 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.
Learn more about 6q16 deletion syndrome and connect with other Simons Searchlight families with the resources below:
Support Resources
- Simons Searchlight Community – 6q16 Deletion Facebook group
- Unique – 6q16 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.
There is currently no GeneReviews for 6q16 Deletions.
Research Article Summaries
We currently do not have any article summaries for 6q16 Deletion, but we add resources to our website as they become available.
The information available about 6q16 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 6q16 Deletion articles can be found here.
Research Opportunities
Simons Searchlight
Help the Simons Searchlight team learn more about 6q16 Deletions 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 6q16 Deletions families.
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