Chromosome 18p tetrasomy
Other Names for this Disease
- Tetrasomy 18p
- Tetrasomy chromosome 18p
- Isochromosome 18p
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chromosome 18 (18p) appears four times (tetrasomy) rather than the normal two times in cells of the body. The symptoms of chromosomy 18p tetrasomy vary from case to case but may include abnormalities of the head and face (craniofacial) area, malformations of the spine, hands, and/or feet, neuromuscular abnormalities, kidney malformations, intellectual disability, speech delays, and behavioral abnormalities. In most cases, chromosome 18p tetrasomy is the result of a spontaneous (de novo) genetic change (mutation) early in fetal development during pregnancy. Although there is no specific treatment or cure for chromosome 18p tetrasomy, there are ways to manage the symptoms. A team of doctors or specialists is often needed to figure out the treatment options for each person.Chromosome 18p tetrasomy is a chromosomal disorder that affects many parts of the body. It occurs when the short arm of
Last updated: 7/25/2016
- Chromosome 18, Tetrasomy 18p. National Organization for Rare Disorders (NORD). 2009; http://rarediseases.org/rare-diseases/chromosome-18-tetrasomy-18p/.
- Tetrasomy 18p. Chromosome 18 Registry and Research Society. 12/9/2015; http://www.chromosome18.org/tetrasomy-18p/.
- Courtney Sebold, Elizabeth Roeder, Marsha Zimmerman, Bridgette Soileau, Patricia Heard,1 Erika Carter, Martha Schatz, W. Abraham White, Brian Perry, Kent Reinker, Louise O’Donnell, Jack Lancaster, John Li, Minire Hasi, Annice Hill, Lauren Pankratz, Daniel E. Hale, Jannine D. Cody. Tetrasomy 18p: Report of the Molecular and Clinical Findings of 43 Individuals. American Journal of Medical Genetics. June 2010; 152A:2164-2172. http://www.ncbi.nlm.nih.gov/pubmed/20803640.
- 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) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
- 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 18p tetrasomy. Click on the link to view a sample search on this topic.