Chromosome 22, Trisomy Mosaic
National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Chromosome 22, Trisomy Mosaic 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.
Chromosome 22, Trisomy Mosaic is a rare chromosomal disorder in which chromosome 22 appears three times (trisomy) rather than twice in some cells of the body. The term "mosaic" indicates that some cells contain the extra chromosome 22, whereas others have the normal chromosomal pair.
The range and severity of associated symptoms and findings may vary, depending upon the percentage of cells with the chromosomal abnormality. However, characteristic features typically include growth delays, mental retardation, unequal development of the two sides of the body (hemidystrophy), and webbing of the neck. Affected individuals may also have abnormal outward deviation of the elbows upon extension (cubitus valgus), multiple pigmented moles or birthmarks (nevi), distinctive malformations of the head and facial (craniofacial) area, and other physical abnormalities.
American Heart Association
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Genetic and Rare Diseases (GARD) Information Center
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- Gaithersburg, MD 20898-8126
- Tel: (301)251-4925
- Fax: (301)251-4911
- Tel: (888)205-2311
- Website: http://rarediseases.info.nih.gov/GARD/
March of Dimes Birth Defects Foundation
- 1275 Mamaroneck Avenue
- White Plains, NY 10605
- Tel: (914)997-4488
- Fax: (914)997-4763
- Website: http://www.marchofdimes.com
Support Organization for Trisomy 13/18 and Related Disorders, UK
- c/o Christine Rose
- 48 Froggatts Ride
- West Midlands, B76 2TQ SOFT
- United Kingdom
- Tel: 1213513122
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- Website: http://www.soft.org.uk
Support Organization for Trisomy 18, 13, and Related Disorders
- 2982 S. Union Street
- Rochester, NY 14624-1926
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- Website: http://www.trisomy.org
- 1825 K Street NW, Suite 1200
- Washington, DC 20006
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- Website: http://www.thearc.org
UNIQUE - Rare Chromosome Disorder Support Group
- The Rare Chromosome Disorder Support Group
- Surrey, RH8 9EE
- United Kingdom
- Tel: 441883723356
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- Website: https://www.facebook.com/pages/Unique-Rare-Chromosome-Disorder-Support-Group/130797430472
For a Complete Report
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 email@example.com
Last Updated: 12/9/1969
Copyright 2003 National Organization for Rare Disorders, Inc.
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