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.

Last updated on 05-01-20

Name: Chromosome Disorder Outreach CDO PO Box 724
Boca Raton, FL, 33429 , United States
Phone: +1-561-395-4252 Email: https://chromodisorder.org/contact/ Url: https://chromodisorder.org/
Name: Chromosome 22 Central 338 Spruce Street North Timmins
Ontario P4N 6N5
Email: info@c22c.org Url: http://www.c22c.org/
Name: Unique – Rare Chromosome Disorder Support Group G1, The Stables Station Road West
Surrey RH8 9EE
United Kingdom
Phone: +44 (0)1883 723356 Email: info@rarechromo.org Url: https://www.rarechromo.org/
Name: The International 22q11.2 Foundation Inc. PO Box 532
Matawan, NJ, 07747, United States
Phone: 877-739-1849 Email: info@22q.org Url: http://www.22q.org

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The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

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