15q15 Deletion

Below is a summary of 15q15 deletion syndrome observed in research publications. This is not meant to take the place of medical advice.

What is 15q15 deletion syndrome?

15q15 deletion syndrome happens when a person is missing a piece of chromosome 15, 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.


Because the 15q15 region is important for the proper function of the body’s cells, some people may have:

  • Intellectual disability
  • Developmental delay
  • Low muscle tone
  • Gastrointestinal reflux and feeding issues
  • Sideways curvature of the spine, also called scoliosis
  • Brain changes seen on magnetic resonance imaging (MRI)
  • Minor genital defects
  • Vision issues
  • Speech difficulties
  • Learning difficulties

Do people who have 15q15 deletion syndrome look different?

People with 15q15 deletion syndrome may look different. Appearance can vary and can include some but not all of these features:

  • Beaked or prominent nose
  • Small lower jaw
  • Thin upper lip
  • Long slender fingers
  • Thin body type and tall height

How many people have 15q15 deletion syndrome?

15q15 deletion syndrome is very rare, and the number of people who have it is unknown.


Support Resources



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 15q15 Deletion.


Research Article Summaries

We currently do not have any article summaries for 15q15 Deletion, but we add resources to our website as they become available.

The information available about 15q15 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 15q15 Deletion articles can be found here.


Research Opportunities

Simons Searchlight

Help the Simons Searchlight  team learn more about 15q15 Deletion genetic changes by taking part in our research. You can learn more about the project and sign up here.


Family Stories

We do not currently have any stories from 15q15 Deletion families.

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