Chromosome 12p duplication
Other Names for this Disease
- Duplication 12p
- Trisomy 12p
- 12p duplication
- 12p trisomy
- Partial trisomy 12p
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chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 12. 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 12p duplication include macrocephaly (unusually large head), abnormal muscle tone, characteristic facial features, developmental delay and intellectual disability. 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 12p duplication is a
Last updated: 12/16/2015
- Duplications of 12p. Unique. 2007; http://www.rarechromo.org/information/Chromosome%2012/12p%20duplications%20FTNW.pdf.
- Genetics Home Reference (GHR) contains information on Chromosome 12p duplication. This website is maintained by the National Library of Medicine.
- Unique is a source of information and support to families and individuals affected by rare chromosome disorders. Click on the link to view information about duplications of 12p.
- 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 12p duplication. Click on the link to view a sample search on this topic.