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.
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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Chromosome 22 Central
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- Fuquay-Varina, NC 27526
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- Website: http://www.c22c.org
Genetic and Rare Diseases (GARD) Information Center
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- Tel: (888)205-2311
- Website: http://rarediseases.info.nih.gov/GARD/
March of Dimes
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- Website: http://www.marchofdimes.org and nacersano.org
Support Organization for Trisomy 13/18 and Related Disorders, UK
- c/o Christine Rose
- 48 Froggatts Ride
- West Midlands, B76 2TQ SOFT
- United Kingdom
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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
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UNIQUE - Rare Chromosome Disorder Support Group
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- United Kingdom
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- Website: http://www.rarechromo.org/html/home.asp
For a Complete Report
This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, 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.
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.
Last Updated: 9/4/2015
Copyright 2003 National Organization for Rare Disorders, Inc.
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