Health Library Chromosome 9, Trisomy MosaicFrom Healthwise

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National Organization for Rare Disorders, Inc.

Important
It is possible that the main title of the report Chromosome 9, 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.

Synonyms

  • Trisomy 9 Mosaic
  • Trisomy 9 Mosaicism
  • Trisomy 9 Mosaicism Syndrome
  • Trisomy 9 (Complete Trisomy 9 Syndrome), Included

Disorder Subdivisions

  • None

General Discussion

Chromosome 9, Trisomy Mosaic, also known as Trisomy 9 Mosaicism syndrome, is a rare chromosomal disorder in which the entire 9th chromosome appears three times (trisomy) rather than twice in some cells of the body. The term "mosaic" indicates that some cells contain the extra chromosome 9, while others have the normal chromosomal pair.

Associated symptoms and findings may vary greatly in range and severity, depending on the percentage of cells with the extra chromosome. However, common features include growth deficiency before birth (intrauterine growth retardation); mental retardation; structural malformations of the heart that are present at birth (congenital heart defects); and/or distinctive abnormalities of the skull and facial (craniofacial) region, such as a sloping forehead, a bulbous nose, short eyelid folds (palpebral fissures), deeply set eyes, and/or low-set, malformed ears. The syndrome may also be characterized by musculoskeletal, genital, kidney (renal), and/or additional physical abnormalities. Chromosome 9, Trisomy Mosaic may be caused by errors during the division of a parent's reproductive cells (meiosis) or during the division of body tissue cells (somatic cells) early in the development of the embryo (mitosis).
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Resources

Support Organization for Trisomy 18, 13, and Related Disorders
2982 South Union Street
Rochester, NY 14624-1926
Fax: (585)594-1957
Tel: (800)716-7638
Email: barbv@trisomy.org
Internet: http://www.trisomy.org

March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
Tel: (914)428-7100
Fax: (914)997-4763
Tel: (888)663-4637
Email: Askus@marchofdimes.com
Internet: http://www.marchofdimes.com

The Arc (a national organization on mental retardation)
1010 Wayne Ave
Suite 650
Silver Spring, MD 20910
Tel: (301)565-3842
Fax: (301)565-3843
Tel: (800)433-5255
TDD: (817)277-0553
Email: info@thearc.org
Internet: http://www.thearc.org/

AmeriFace
PO Box 751112
Las Vegas, NV 89136
USA
Tel: 7027699264
Fax: 7023415351
Tel: 8884861209
Email: info@ameriface.org
Internet: http://www.ameriface.org

Trisomy 9 International Parent Support (9TIPS)
Alice Todd
4027 E. Piedmont Drive
Highland, CA 92346
USA
Tel: 9098624470
Email: atoddna@sprynet.com

American Heart Association
National Center
7272 Greenville Avenue
Dallas, TX 75231-4596
Tel: (214)373-6300
Fax: (214)373-0268
Tel: (800)242-8721
Email: inquire@heart.org
Internet: http://www.americanheart.org

Congenital Heart Anomalies, Support, Education, & Resources
2112 North Wilkins Road
Swanton, OH 43558
Tel: (419)825-5575
Fax: (419)825-2880
Email: chaser@compuserve.com
Internet: http://www.csun.edu/~hcmth011/chaser/chaser-news.html

Support Organization for Trisomy 13/18 and Related Disorders, UK
7 Orwell Road
Petersfield
Hampshire, Intl GU31 4LQ
United Kingdom
Tel: 0121-351-3122
Email: enquiries@soft.org.uk
Internet: http://www.soft.org.uk

UNIQUE - Rare Chromosome Disorder Support Group
P.O. Box 2189
Caterham
Surrey, Intl CR3 5GN
United Kingdom
Tel: 44 0 1883 330766
Fax: 44 0 1883 330766
Email: info@rarechromo.org
Internet: http://www.rarechromo.org

Craniofacial Foundation of America
975 East Third Street
Chattanooga, TN 37403
Tel: (423)778-9192
Fax: (423)778-8172
Tel: (800)418-3223
Email: farmertm@erlanger.org
Internet: http://www.craniofacialcenter.com

SOFTWA (Support Organisation for Trisomy and Related Disorders)

Email: softwa@arach.net.au
Internet: http://www.trisomy9.org

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc. ® (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html

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 orphan@rarediseases.org

Last Updated:  3/10/2003
Copyright  1996, 2001, 2003 National Organization for Rare Disorders, Inc.


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