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15q11.2 BP1-BP2 Deletion

The information for this summary of 15q11.2 BP1-BP2 deletion syndrome comes from research publications. This is not meant to take the place of medical advice.

Click here for our full 15q11.2 BP1-BP2 Deletion Gene Guide

The online Gene Guide includes more information about 15q11.2 BP1-BP2 deletion such as the chance of having another child with this condition, behavior and development concerns linked to 15q11.2 BP1-BP2 deletion or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.

15q11.2 BP1-BP2 deletion syndrome is also called Burnside-Butler syndrome or 15q11.2 BP1-BP2 microdeletion syndrome. For this webpage, we will be using the name 15q11.2 BP1-BP2 deletion syndrome to encompass the wide range of variants observed in the people identified.

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What is 15q11.2 BP1-BP2 deletion syndrome?

15q11.2 BP1-BP2 deletion syndrome happens when a person has a missing 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.

Key Role

Genes within the 15q11.2 BP1-BP2 deletion region are important for brain development and function.

Symptoms

Because genes in the 15q11.2 BP1-BP2 deletion region are important in brain development and function, some people who have 15q11.2 BP1-BP2 deletion syndrome have:

  • Developmental delay
  • Intellectual disability
  • Language delay
  • Memory issues
  • Lower than average muscle tone
  • Seizures
  • Brain changes seen on magnetic resonance imaging (MRI)

How many people have 15q11.2 BP1-BP2 deletion syndrome?

As of 2025, over 800 people with 15q11.2 BP1-BP2 deletion syndrome have been described in medical research. Many people who have the 15q11.2 BP1-BP2 deletion do not have medical features.

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Support Resources

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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 15q11.2 BP1-BP2 Deletion.

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Research Article Summaries

We currently do not have any article summaries for 15q11.2 BP1-BP2 Deletion, but we add resources to our website as they become available.

The information available about 15q11.2 BP1-BP2 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 15q11.2 BP1-BP2 Deletion articles can be found here.

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Research Opportunities

Simons Searchlight

Help the Simons Searchlight team learn more about 15q11.2 BP1-BP2 Deletion genetic changes by taking part in our research. You can learn more about the project and sign up here.

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Family Stories

Stories from 15q11.2 BP1-BP2 deletion families:

Samuel

Click here to share your family’s story!