National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Chromosome 5q duplication


Other Names:
Duplication 5q; Trisomy 5q; Partial trisomy 5q
Categories:
Chromosome 5q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 5. 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 5q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features.[1] Chromosome 5q duplication can be de novo or inherited from a parent with a chromosomal rearrangement such as a balanced translocation. Treatment is based on the signs and symptoms present in each person.
Last updated: 7/9/2015

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Where to Start

  • Genetics Home Reference (GHR) contains information on Chromosome 5q 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 5q duplication. Click on the link to view a sample search on this topic.

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  1. Kumar D, Heath PR, and Blank CE. Clinical manifestations of trisomy 5q. J Med Genet. 1987 Mar;24(3):180-4. March 1987; 24(3):180-184. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1049956/.