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Chromosome 9, Tetrasomy 9p

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Synonyms of Chromosome 9, Tetrasomy 9p
  • Chromosome 9, Tetrasomy 9p Mosaicism
  • Mosaic Tetrasomy 9p
  • Tetrasomy 9p
  • Tetrasomy, Short Arm of Chromosome 9

Disorder Subdivisions



General Discussion
Chromosome 9, Tetrasomy 9p is a very rare chromosomal disorder in which the short arm of the ninth chromosome (9p) appears four times (tetrasomy) rather than twice in all or some cells of the body. Individuals with a normal chromosomal make-up (karyotype) have two 9th chromosomes, both of which have a short arm ("9p") and a long arm ("9q"). However, in individuals with Chromosome 9, Tetrasomy 9p, four short arms (9ps) are present in cells rather than the normal two.

The symptoms of Chromosome 9, Tetrasomy 9p may vary greatly in range and severity from case to case. Associated abnormalities may include mild growth retardation, moderate to severe delay in the attainment of skills requiring the coordination of muscular and mental activities (psychomotor retardation), and/or moderate to severe mental retardation. In addition, the disorder may be characterized by various physical abnormalities, such as malformations of the skull and facial (craniofacial) region, abnormalities of the hands and fingers, skeletal malformations, and/or heart (cardiac) defects. Chromosome 9, Tetrasomy 9p appears to result from spontaneous (de novo) errors very early in embryonic development that occur for unknown reasons (sporadically).
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Organizations related to Chromosome 9, Tetrasomy 9p
  • American Heart Association
    7272 Greenville Avenue
    Dallas TX 75231-4596
    Phone #: 214-373-6300
    800 #: 800-242-8721
    e-mail: Review.personal.info@heart.org
    Home page: http://www.americanheart.org
  • Chromosome Disorder Outreach, Inc.
    P.O. Box 724
    Boca Raton FL 33429-0724
    Phone #: 561-395-4252
    800 #: N/A
    e-mail: info@chromodisorder.org
    Home page: http://www.chromodisorder.org
  • Genetic and Rare Diseases (GARD) Information Center
    PO Box 8126
    Gaithersburg MD 20898-8126
    Phone #: 301-251-4925
    800 #: 888-205-2311
    e-mail: http://rarediseases.info.nih.gov/GARD/EmailForm.aspx
    Home page: http://rarediseases.info.nih.gov/GARD
  • Support Organization for Trisomy 18, 13, and Related Disorders SOFT
    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
  • Trisomy 9 International Parent Support (9TIPS)
    4027 E. Piedmont Drive
    Highland CA 92346
    Phone #: 909-862-4470
    800 #: --
    e-mail: atoddna@sprynet.com
    Home page: http://www.trisomy9.org/9tips.htm
  • UNIQUE - Rare Chromosome Disorder Support Group
    P.O. Box 2189
    Caterham
    Surrey Intl CR3 5GN
    Phone #: 44 -0 1-883 330766
    800 #: --
    e-mail: info@rarechromo.org
    Home page: http://www.rarechromo.org

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Last modified Tuesday, September 07, 2010