16p11.2 Deletions

What does it mean to have a 16p11.2 deletion?

Genes provide our body’s instructions and are carried within structures called chromosomes. Sometimes individuals are born with extra or missing sections of chromosomes. A loss or gain of genetic material can impact health, learning, and behavior. The effects may vary based on the location and size of the changes, and the importance of genes there.

  • Individuals with 16p11.2 deletions are missing a specific section in one of their two chromosome 16s.

Individuals with 16p11.2 deletions appear to share an increased risk for developmental problems, which may or may not include autism. Depending on what genetic information is missing, this loss can impact a person’s health, learning and behavior. The information available about 16p11.2 deletions is limited and families and clinicians share a critical need for more information.

You can learn more about what features have been seen with this genetic change by reading our VIP summaries:


16p11.2 Deletion Guidebook is finally here!

After 5 years of collecting natural history, and several months of development, we are proud to share our free to download 16p11.2 Deletions Guidebook! This resource was developed for families and clinicians by Simons VIP Connect Study Coordination team, along with several of our researchers and medical experts. A big thank you is extended to Elly Brokamp, our 2015 summer intern, who is a genetic counseling student from Sarah Lawrence College, for developing this wonderful resource.

  1. What is a 16p11.2 Deletion, and how is it identified?
  2. What are the most common characteristics associated with this genetic finding?
  3. What evaluations are recommended?
  4. What kind of follow up is recommended?
  5. What ongoing concerns are there, and what do you tell your child's teachers?
  6. Resources and References

Download a .pdf copy

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Posted 12/9/15


16p11.2 Deletions and Duplications Infographic

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These resources all discuss group 1 16p11.2 deletions, as seen in the picture below:

 


For more detailed information, check out:

 


 


 

 

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