Chromosome 9, Tetrasomy 9p
National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Chromosome 9, Tetrasomy 9p 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 Back to top
- Tetrasomy 9p
- Tetrasomy, Short Arm of Chromosome 9
- Chromosome 9, Tetrasomy 9p Mosaicism
- Mosaic Tetrasomy 9p
Disorder Subdivisions Back to top
General Discussion Back to top
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).
Resources Back to top
Support Organization for Trisomy 18, 13, and Related Disorders
2982 S. Union Street
Rochester, NY 14624-1926
Chromosome Disorder Outreach, Inc.
P.O. Box 724
Boca Raton, FL 33429-0724
Trisomy 9 International Parent Support (9TIPS)
4027 E. Piedmont Drive
Highland, CA 92346
American Heart Association
8200 Brookriver Drive
Dallas, TX 75247
UNIQUE - Rare Chromosome Disorder Support Group
P.O. Box 2189
Surrey, Intl CR3 5GN
Tel: 44 0 1883 330766
Fax: 44 0 1883 330766
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
For a Complete Report Back to top
This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".
The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.
It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report
This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email firstname.lastname@example.org
Last Updated: 5/27/2008
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