Chromosome 5p duplication
Other Names for this Disease
- Duplication 5p
- Trisomy 5p
- 5p duplication
- 5p trisomy
- Partial trisomy 5p
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chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) 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 5p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person.Chromosome 5p duplication is a
Last updated: 6/29/2015
- Chromosome 5, Trisomy 5p. NORD. 2013; http://rarediseases.org/rare-diseases/chromosome-5-trisomy-5p/.
- Genetics Home Reference (GHR) contains information on Chromosome 5p duplication. This website is maintained by the National Library of Medicine.
- The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Chromosome 5p duplication. Click on the link to view a sample search on this topic.