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Diseases

Genetic and Rare Diseases Information Center (GARD)

Chromosome 13q duplication


Other Names for this Disease
  • Duplication 13q
  • Trisomy 13q
  • 13q duplication
  • 13q trisomy
  • Partial trisomy 13q
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Overview

Chromosome 13q duplication is a chromosome abnormality that occurs when there is an extra (duplicated) copy of genetic material on the long arm (q) of chromosome 13. 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 13q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features.[1][2] 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 chromosome 13q duplication. You can contact GARD if you have questions about a specific duplication on chromosome 13. To learn more about chromosomal anomalies please visit our GARD webpage on FAQs about Chromosome Disorders.
Last updated: 3/17/2016

References

  1. Krygier M, Lipska-Zietkiewicz BS, Koczkowska M, Wierzba J, Limon J. Mild phenotype of a large partial 13q trisomy. Clin Dysmorphol. October 2014; 23(4):155-157.
  2. Mahjoubi F, Rahnama M, Torabi R. Partial trisomy 13q in a blind and deaf baby boy. Genet Couns. 2013; 24(1):93-94.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Chromosome 13q 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 13q duplication. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Duplication 13q
  • Trisomy 13q
  • 13q duplication
  • 13q trisomy
  • Partial trisomy 13q
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.