National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

22q11.2 duplication syndrome



Are there people with a 22q11.2 duplication who have no speech, behavior, learning, or health problems?

Yes. The 22q11.2 duplication can be ‘silent’, or at least there may be no signs or symptoms that make a person stand out from the rest of their family. We know this because some parents and siblings of children with a 22q11.2 duplication have the same duplication, but do not have any obvious unusual features or delayed development - at least not to the point where they need medical or educational intervention. The effect of genetic conditions such as a 22q11.2 duplication on development, health and behavior ranges from being barely noticeable to being obvious and severe.[1]
Last updated: 4/23/2012

We hope this information is helpful. We strongly recommend you discuss this information with your doctor. If you still have questions, please contact us.

Warm regards,
GARD Information Specialist

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  1. 22q11.2 duplications. Unique. 2011; http://www.rarechromo.org/information/Chromosome%2022/22q11.2%20duplications%20FTNW.pdf. Accessed 4/23/2012.