Chromosome 9, Trisomy 9p (Multiple Variants)
National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Chromosome 9, Trisomy 9p (Multiple Variants) 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 Back to top
- Trisomy 9P Syndrome (Partial), Included
- Chromosome 9, Partial Trisomy 9P, Included
- Chromosome 9, Complete Trisomy 9P
- Rethore Syndrome (obsolete)
- Duplication 9p Syndrome
- Dup(9p) Syndrome
- Chromosome 9, Trisomy 9pter-q11-13, Included
- Chromosome 9, Trisomy 9pter-q22-32, Included
Disorder Subdivisions Back to top
General Discussion Back to top
This disease entry was made possible due to the generosity of the Robert Lee and Clara Guthrie Patterson Trust, through grant funds provided for the National Organization for Rare Disorders' "Pediatric Rare Disease Database Project."
Chromosome 9, Trisomy 9p is a rare chromosomal syndrome in which a portion of the 9th chromosome appears three times (trisomy) rather than twice in cells of the body. The trisomy may involve a portion of the short arm (9p), the entire short arm, or the short arm and a portion of the long arm (9q) of chromosome 9. (Each chromosome contains a short arm known as "p" and a long arm designated as "q.") Evidence suggests that, in many cases, associated symptoms and findings may be relatively similar among affected infants despite differing lengths of the trisomic (duplicated) segment of 9p. However, in those with larger trisomies (e.g., extending to middle or end [distal] regions of 9q), additional features may also be present that appear to correlate with the extent of the duplication.
Virtually all individuals with Trisomy 9p are affected by mental retardation and distinctive malformations of the skull and facial (craniofacial) region. In some instances, additional physical abnormalities may also be present, such as other skeletal defects, structural malformations of the heart that are present at birth (congenital heart defects), and/or other findings. In some cases, the trisomy appears to result from a balanced chromosomal rearrangement in one of the parents; in others, it is thought to arise from spontaneous (de novo) errors very early in embryonic development that occur for unknown reasons (sporadically).
Resources Back to top
Support Organization for Trisomy 18, 13, and Related Disorders
2982 S. Union Street
Rochester, NY 14624-1926
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
1660 L Street, NW, Suite 301
Washington, DC 20036
Post Office Box 751112
Limekiln, PA 19535
Trisomy 9 International Parent Support (9TIPS)
4027 E. Piedmont Drive
Highland, CA 92346
American Heart Association
8200 Brookriver Drive
Dallas, TX 75247
Support Organization for Trisomy 13/18 and Related Disorders, UK
c/o Christine Rose
48 Froggatts Ride
West Midlands, Intl B76 2TQ SOFT
UNIQUE - Rare Chromosome Disorder Support Group
P.O. Box 2189
Surrey, Intl CR3 5GN
Tel: 44 0 1883 330766
Fax: 44 0 1883 330766
Craniofacial Foundation of America
975 East Third Street
Chattanooga, TN 37403
Support Organisation for Trisomy and Related Disorders
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
For a Complete Report Back to top
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.
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Last Updated: 4/7/2008
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