16p11.2 Duplications

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

  • 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.

    • Those with 16p11.2 duplications have a specific extra section in one of their two chromosome 16's.

  • Individuals with 16p11.2 duplications appear to share an increased risk for developmental problems, which may or may not include autism. Depending on what genetic information is extra/gained, this gain can impact a person’s health, learning and behavior.

The information available about 16p11.2 duplications is limited and families and clinicians share a critical need for more information. Simons VIP community and research members greatly contribute to the development of new information regarding the effects of the 16p duplication. You can learn more about what features have been seen with this genetic change by reading our VIP summary:

VIP Summary #9: Duplication of 16p11.2: Defining the Effect on Cognition, Behavior, and Medical Comorbidities


16p11.2 Deletions and Duplications Infographic

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

 


 For more detailed information, check out:

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