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Diseases

Genetic and Rare Diseases Information Center (GARD)

Chromosome 9q duplication


Other Names for this Disease
  • Duplication 9q
  • Trisomy 9q
  • 9q duplication
  • 9q trisomy
  • Partial trisomy 9q
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Overview

Chromosome 9q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 9. 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 9q 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][2]

This page is meant to provide general information about 9q duplications. You can contact GARD if you have questions about a specific duplication on chromosome 9. To learn more about chromosomal anomalies please visit our GARD webpage on FAQs about Chromosome Disorders.
Last updated: 1/14/2016

References

  1. Tiong K, Cotterill A, Falhammar H. Adult case of partial trisomy 9q. BMC Med Genet. February 2010; 11:26.
  2. Nampoothiri S, Lakshman LR, Anilkumar A, Thampi MV. Partial trisomy 9q due to maternal 9q 17q translocation. Indian Pediatr. 2008 Jul;45(7):595-8. July 2008; 45(7):595-598.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Chromosome 9q 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 9q duplication. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Duplication 9q
  • Trisomy 9q
  • 9q duplication
  • 9q trisomy
  • Partial trisomy 9q
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.