Diseases & Conditions


A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Trisomy


Synonyms of Trisomy
  • Chromosomal Triplication

Disorder Subdivisions



    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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    Organizations related to Trisomy
    • National Down Syndrome Congress
      1370 Center Drive
      Atlanta GA 30338
      Phone #: 770-604-9500
      800 #: 800-232-6372
      e-mail: info@ndsccenter.org
      Home page: http://www.ndsccenter.org
    • Support Organization for Trisomy 18, 13, and Related Disorders
      2982 South Union Street
      Rochester NY 14624-1926
      Phone #: N/A
      800 #: 800-716-7638
      e-mail: barbv@trisomy.org
      Home page: http://www.trisomy.org
    • The Arc (a national organization on mental retardation)
      1010 Wayne Ave
      Silver Spring MD 20910
      Phone #: 301-565-3842
      800 #: 800-433-5255
      e-mail: info@thearc.org
      Home page: http://www.thearc.org/



    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