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. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
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
- Email: Review.firstname.lastname@example.org
- 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 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
- Email: email@example.com
- 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
- Tel: (800)433-5255
- Email: email@example.com
- Website: http://www.thearc.org
UNIQUE - Rare Chromosome Disorder Support Group
- The Rare Chromosome Disorder Support Group
- Surrey, RH8 9EE
- United Kingdom
- Tel: 441883723356
- Email: firstname.lastname@example.org or email@example.com
- 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 firstname.lastname@example.org
Last Updated: 1/25/1970
Copyright 2001 National Organization for Rare Disorders, Inc.
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