Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Chromosome 22q duplication


See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

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.[1]

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.
Last updated: 1/13/2016

References

  1. Chromosome 22. Genetics Home Reference. January 2015; http://ghr.nlm.nih.gov/chromosome/22.
GARD Video Tutorials
GARD Video Tutorials
Learn how to find information on treatment, research, specialists, and more.
Contact GARD
Contact GARD
Contact a GARD Information Specialist with your questions about this condition.

Basic Information

  • Genetics Home Reference (GHR) contains information on Chromosome 22q duplication. This website is maintained by the National Library of Medicine.

In Depth Information

  • PubMed is a searchable database of medical literature and lists journal articles that discuss Chromosome 22q duplication. Click on the link to view a sample search on this topic.
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.