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Diseases

Genetic and Rare Diseases Information Center (GARD)

Chromosome 18p tetrasomy


Other Names for this Disease
  • Tetrasomy 18p
  • Tetrasomy chromosome 18p
  • Isochromosome 18p
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Overview

Tetrasomy 18p is a chromosomal disorder in which the short arm of the 18th chromosome (18p) appears four times (tetrasomy) rather than the normal two times in cells of the body.[1][2] The symptoms of tetrasomy 18p vary from case to case but may include craniofacial abnormalities; malformations of the spine, hands, or feet; neuromuscular abnormalities; kidney malformations; moderate to severe mental retardation; limitations in speech; and/or behavioral abnormalities. In most cases, tetrasomy 18p is the result of a spontaneous (de novo) genetic change (mutation) early in embryonic development that occurs for unknown reasons (sporadic).[1]
Last updated: 3/13/2009

References

  1. Chromosome 18, Tetrasomy 18p. National Organization for Rare Disorders (NORD). 2001; http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Chromosome%2018%2C%20Tetrasomy%2018p. Accessed 3/13/2009.
  2. Tetrasomy 18p. Chromosome 18 Registry and Research Society. 2008; http://www.chromosome18.org/Conditions/Tetrasomy18p/tabid/129/Default.aspx. Accessed 3/13/2009.
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Basic Information

  • The Chromosome 18 Registry & Research Society is an advocacy organization composed of parents of individuals with chromosome 18 abnormalities. Click on the link above to view their information page on tetrasomy 18p.
  • Genetics Home Reference (GHR) contains information on Chromosome 18p tetrasomy. 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.

In Depth Information

  • 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 18p tetrasomy. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Tetrasomy 18p
  • Tetrasomy chromosome 18p
  • Isochromosome 18p
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.