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Mosaic trisomy 14
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Overview
Mosaic trisomy 14 is a rare chromosomal disorder in which there are 3 copies (trisomy) of chromosome 14 in some cells of the body, while other cells have the usual two copies. The extent and severity of features in affected individuals can vary. Signs and symptoms that have been most commonly reported include intrauterine growth restriction; failure to to thrive; developmental delay; intellectual disability; distinctive facial characteristics; structural malformations of the heart; and other physical abnormalities.[1][2] This condition is most often caused by an error in cell division in the egg or sperm cell before conception, or in fetal cells after fertilization. Treatment is directed toward the specific signs and symptoms in each individual.[1]
References
- Chromosome 14, Trisomy Mosaic. NORD. http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/999/viewAbstract. Accessed November 13, 2012.
- Trisomy 14 mosaicism. Unique. http://www.rarechromo.org/information/Chromosome%2014/Trisomy%2014%20mosaicism%20FTNW.pdf. Accessed November 14, 2012.
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General Information
- The National Human Genome Research Institute, part of the National Institutes of Health (NIH), has developed a fact sheet on chromosome abnormalities, which may be helpful to you. To read this information, visit the link.
MedlinePlus, the National Library of Medicine Web site designed to direct you to information and resources that help you research your health questions, provides further information about chromosomes. Click on the link. - Genetics Home Reference (GHR) contains information on Mosaic trisomy 14. Click on the link to go to GHR and review the information.
- 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 mosaic trisomy 14.
- 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.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Mosaic trisomy 14. Click on the link to view a sample search on this topic.