Chromosome 22q11.2 duplication syndrome

Living with

What is the general well-being of individuals with 22q11.2 duplication syndrome?

Overall, children and adults with a 22q11.2 duplication are generally healthy. The difficulties some children with 22q11.2 duplication have with fine motor skills mean that affected children may be late to learn how to undress, dress, and wash themselves. Toilet training may also be delayed.

Unique (a rare chromosomal support group) reports a small number of young children with 22q11.2 duplication syndrome with frequent respiratory infections (that can become serious chest infections) and an even smaller number (three children and one adult) have significant allergies. A further small number, around six per cent, have been reported with frequent headaches or migraines.

Overall, a small number of children with 22q11.2 duplication seek medical care at a hospital more often than typically developing children. The most common reason for seeking medical care at a hospital is temporary hearing loss that is caused by a build-up of fluid inside the ear spaces, with respiratory infections being another common reason.

The medical and developmental symptoms found in individuals with 22q11.2 duplication syndrome vary significantly from one affected individual to another, even within the same family. Some individuals with 22q11.2 duplication do not experience any known symptoms at all. Therefore, the impact of having 22q11.2 duplication syndrome on an individual's overall well being also varies greatly.

Genetics Home Reference. (2011). 22q11.2 duplication. Retrieved February 20, 2016, from http://ghr.nlm.nih.gov/condition/22q112-duplication

Firth HV. 22q11.2 Duplication. 2009 Feb 17 [Updated 2013 Nov 21]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from: http://www.ncbi.nlm.nih.gov/books/NBK3823/

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