Trisomy

National Organization for Rare Disorders, Inc.

Important
It is possible that the main title of the report Trisomy is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

  • Chromosomal Triplication

Disorder Subdivisions

  • None

General Discussion

Trisomies are very rare genetic disorders characterized by a chromosome aberration. Chromosomes are found in the nucleus of all body cells. They carry the genetic characteristics of each individual. Pairs of human chromosomes are numbered from 1 through 22, with an unequal 23rd pair of X and Y chromosomes for males, and two X chromosomes for females. People with a Trisomy have an extra chromosome added to one of the normal pairs. Each chromosome has a short arm that is designated "p" and a long arm identified by the letter "q." The triplication of the chromosome may be partial; i.e., with only a portion of the chromosome duplicated. Defects are classified by the name of the abnormal chromosome pair and which portion of the chromosome is affected. For example, 22p+ means that there is an extra short arm added to the 22nd pair of chromosomes. In general, the most common symptom of the trisomies is mental retardation.
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Resources

Support Organization for Trisomy 18, 13, and Related Disorders
2982 South Union Street
Rochester, NY 14624-1926
Fax: (585)594-1957
Tel: (800)716-7638
Email: barbv@trisomy.org
Internet: http://www.trisomy.org

Arc (a national organization on mental retardation)
1010 Wayne Ave
Suite 650
Silver Spring, MD 20910
Tel: (301)565-3842
Fax: (301)565-3843
Tel: (800)433-5255
TDD: (817)277-0553
Email: info@thearc.org
Internet: http://www.thearc.org/

National Down Syndrome Congress
1370 Center Drive
Suite 102
Atlanta, GA 30338
USA
Tel: (770)604-9500
Fax: (770)604-9898
Tel: (800)232-6372
Email: info@ndsccenter.org
Internet: http://www.ndsccenter.org

Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)251-4925
Fax: (301)251-4911
Tel: (888)205-2311
TDD: (888)205-3223
Email: ordr@od.nih.gov
Internet: http://rarediseases.info.nih.gov/Default.aspx

For a Complete Report

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc. ® (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html

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