Chromosome 14, Trisomy Mosaic
National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Chromosome 14, Trisomy Mosaic is not the name you expected.
Chromosome 14, Trisomy Mosaic is a rare chromosomal disorder in which chromosome 14 appears three times (trisomy) rather than twice in some cells of the body. The term "mosaic" indicates that some cells contain the extra chromosome 14, whereas others have the normal chromosomal pair.
The disorder may be characterized by growth delays before birth (intrauterine growth retardation); failure to grow and gain weight at the expected rate (failure to thrive) during infancy; delays in the acquisition of skills requiring the coordination of mental and physical abilities (psychomotor delays); and mental retardation. Affected infants also have distinctive abnormalities of the head and facial (craniofacial) region, such as a prominent forehead; deeply set, widely spaced eyes; a broad nasal bridge; and low-set, malformed ears. Additional craniofacial abnormalities may include an unusually small lower jaw (micrognathia); a large mouth and thick lips; and incomplete closure or abnormally high arching of the roof of the mouth (palate). Many affected infants also have structural malformations of the heart (e.g., tetralogy of Fallot). In some cases, additional physical abnormalities may also be present.
American Heart Association
- 7272 Greenville Avenue
- Dallas, TX 75231
- Tel: (214)784-7212
- Fax: (214)784-1307
- Tel: (800)242-8721
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- Website: http://www.heart.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 firstname.lastname@example.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
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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
- Fax: (585)594-1957
- Tel: (800)716-7638
- Email: firstname.lastname@example.org
- Website: http://www.trisomy.org
- 1825 K Street NW, Suite 1200
- Washington, DC 20006
- Tel: (202)534-3700
- Fax: (202)534-3731
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- 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: firstname.lastname@example.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.
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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: 5/26/2008
Copyright 2001 National Organization for Rare Disorders, Inc.
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