Chromosome 22, Trisomy Mosaic

National Organization for Rare Disorders, Inc.

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Important
It is possible that the main title of the report Chromosome 22, Trisomy Mosaic is not the name you expected.

Disorder Subdivisions

  • None

General Discussion

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.

Supporting Organizations

American Heart Association

7272 Greenville Avenue
Dallas, TX 75231
Tel: (214)784-7212
Fax: (214)784-1307
Tel: (800)242-8721
Email: Review.personal.info@heart.org
Website: http://www.heart.org

Chromosome 22 Central

c/o Murney Rinholm
7108 Partinwood Drive
Fuquay-Varina, NC 27526
USA
Tel: (919)567-8167
Email: murney.rinholm@c22c.org
Website: http://www.c22c.org

Genetic and Rare Diseases (GARD) Information Center

PO Box 8126
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

1275 Mamaroneck Avenue
White Plains, NY 10605
Tel: (914)997-4488
Fax: (914)997-4763
Email: AskUs@marchofdimes.org or preguntas@nacersano.org
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
Tel: 1213513122
Email: enquiries@soft.org.uk
Website: http://www.soft.org.uk

Support Organization for Trisomy 18, 13, and Related Disorders

2982 S. Union Street
Rochester, NY 14624-1926
Fax: (585)594-1957
Tel: (800)716-7638
Email: barbv@trisomy.org
Website: http://www.trisomy.org

The Arc

1825 K Street NW, Suite 1200
Washington, DC 20006
Tel: (202)534-3700
Fax: (202)534-3731
Tel: (800)433-5255
Email: info@thearc.org
Website: http://www.thearc.org

UNIQUE - Rare Chromosome Disorder Support Group

G1 The Stables
Station Road West
Oxted, RH8 9EE
United Kingdom
Tel: 0044 (0)1883 723356
Email: info@rarechromo.org
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.