Chromosome 9, Trisomy 9p (Multiple Variants)

Important
It is possible that the main title of the report Chromosome 9, Trisomy 9p (Multiple Variants)is not the name you expected.

Synonyms

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

None

General Discussion

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

Support Organization for Trisomy 18, 13, and Related Disorders
2982 South Union Street
Rochester
NY
14624-1926
Fax: (585)594-1957
800: (800)716-7638
barbv@trisomy.org
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
800: (888)663-4637
Askus@marchofdimes.com
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
800: (800)433-5255
TDD: (817)277-0553
info@thearc.org
http://www.thearc.org/

AmeriFace
PO Box 751112
Las Vegas
NV
89136
USA
Tel: (702)769-9264
Fax: (702)341-5351
800: (888)486-1209
info@ameriface.org
http://www.ameriface.org

Trisomy 9 International Parent Support (9TIPS)
Alice Todd
4027 E. Piedmont Drive
Highland
CA
92346
USA
Tel: (909)862-4470
atoddna@sprynet.comAmerican Heart Association
National Center
7272 Greenville Avenue
Dallas
TX
75231-4596
Tel: (214)373-6300
Fax: (214)373-0268
800: (800)242-8721
inquire@heart.org
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
chaser@compuserve.com
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
enquiries@soft.org.uk
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
info@rarechromo.org
http://www.rarechromo.org

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

SOFTWA (Support Organisation for Trisomy and Related Disorders)
softwa@arach.net.au
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: 4/7/2008
Copyright 1996, 1997, 2001 National Organization for Rare Disorders, Inc.

WebMD Medical Reference from the National Organization of Rare Disorders

Last Updated: April 07, 2008

This information is not intended to replace the advice of a doctor. Healthwise disclaims any liability for the decisions you make based on this information.