Chromosome 5, Trisomy 5p

National Organization for Rare Disorders, Inc.

Important
It is possible that the main title of the report Chromosome 5, Trisomy 5p 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

  • Duplication 5p Syndrome
  • Dup(5p) Syndrome
  • Chromosome 5, Trisomy 5p, Complete (5p11-ter), Included
  • Chromosome 5, Trisomy 5p, Partial, Included

Disorder Subdivisions

  • None

General Discussion

Chromosome 5, Trisomy 5p is a rare chromosomal disorder in which all or a portion of the short arm (p) of chromosome 5 (5p) appears three times (trisomy) rather than twice in cells of the body. Associated symptoms and findings may be variable, depending upon the specific length and location of the duplicated (trisomic) portion of chromosome 5p. However, in many affected infants and children, such abnormalities may include low muscle tone (hypotonia); an unusually small head (microcephaly) and additional abnormalities of the head and facial (craniofacial) area; unusually long, slender fingers (arachnodactyly); delays in the acquisition of skills requiring the coordination of mental and physical activities (psychomotor retardation); and mental retardation.
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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)997-4488
Fax: (914)997-4763
Tel: (888)663-4637
Email: Askus@marchofdimes.com
Internet: http://www.marchofdimes.com

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/

Support Organization for Trisomy 13/18 and Related Disorders, UK
c/o Christine Rose
48 Froggatts Ride
Walmley
Sutton Coldfield
West Midlands, Intl B76 2TQ SOFT
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

MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
USA
Tel: (920)336-5333
Fax: (920)339-0995
Tel: (877)336-5333
Email: mums@netnet.net
Internet: http://www.netnet.net/mums/

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
TDD: (888)205-3223
Email: ordr@od.nih.gov
Internet: http://rarediseases.info.nih.gov/Default.aspx

For a Complete Report

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

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