Chromosome 22q duplication

Chromosome 22q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 22. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 22q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Chromosome testing of both parents can provide more information on whether or not the duplication was inherited. In most cases, parents do not have any chromosomal anomaly. However, sometimes one parent is found to have a balanced translocation, where a piece of a chromosome has broken off and attached to another one with no gain or loss of genetic material. The balanced translocation normally does not cause any signs or symptoms, but it increases the risk for having an affected child with a chromosomal anomaly like a duplication. Treatment is based on the signs and symptoms present in each person.

This page is meant to provide general information about 22q duplications. You can contact GARD if you have questions about a specific duplication on chromosome 22. To learn more about chromosomal anomalies please visit our GARD webpage on FAQs about Chromosome Disorders.