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Chromosome 13, Partial Monosomy 13q

National Organization for Rare Disorders, Inc.

Important
It is possible that the main title of the report Chromosome 13, Partial Monosomy 13q 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

  • Partial Monosomy of the Long Arm of Chromosome 13
  • Deletion 13q Syndrome, Partial
  • 13q- Syndrome, Partial
  • Monosomy 13q, Partial

Disorder Subdivisions

  • None

General Discussion

Chromosome 13, Partial Monosomy 13q is a rare chromosomal disorder in which a portion of the long arm (q) of chromosome 13 is missing (deleted or monosomic). The range and severity of symptoms may vary greatly, depending upon the exact size and location of the deletion on 13q. Chromosome 13, Partial Monosomy 13q is usually apparent at birth and may be characterized by low birth weight, malformations of the head and facial (craniofacial) area, abnormalities of the eyes, defects of the hands and/or feet, genital malformations in affected males, and/or additional physical abnormalities. Affected infants and children may also exhibit delays in the acquisition of skills requiring the coordination of mental and muscular activity (psychomotor retardation) as well as varying degrees of mental retardation. In the majority of cases, Chromosome 13, Partial Monosomy 13q appears to occur randomly, for no apparent reason (sporadic).

Resources

Children's Craniofacial Association
13140 Coit Road
Suite 517
Dallas, TX 75240
USA
Tel: (214)570-9099
Fax: (214)570-8811
Tel: (800)535-3643
Email: contactCCA@ccakids.com
Internet: http://www.ccakids.com

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

FACES: The National Craniofacial Association
PO Box 11082
Chattanooga, TN 37401
Tel: (423)266-1632
Fax: (423)267-3124
Tel: (800)332-2373
Email: faces@faces-cranio.org
Internet: http://www.faces-cranio.org

The Arc
1825 K Street NW, Suite 1200
Washington, DC 20006
Tel: (202)534-3700
Fax: (202)534-3731
Tel: (800)433-5255
TDD: (817)277-0553
Email: info@thearc.org
Internet: http://www.thearc.org

Chromosome Disorder Outreach, Inc.
P.O. Box 724
Boca Raton, FL 33429-0724
USA
Tel: (561)395-4252
Fax: (561)395-4252
Email: info@chromodisorder.org
Internet: http://www.chromodisorder.org/CDO/

American Heart Association
7272 Greenville Avenue
Dallas, TX 75231
Tel: (214)784-7212
Fax: (214)784-1307
Tel: (800)242-8721
Email: Review.personal.info@heart.org
Internet: http://www.heart.org

NIH/National Eye Institute
31 Center Dr
MSC 2510
Bethesda, MD 20892-2510
United States
Tel: (301)496-5248
Fax: (301)402-1065
Email: 2020@nei.nih.gov
Internet: http://www.nei.nih.gov/

National Cancer Institute
6116 Executive Blvd Suite 300
Bethesda, MD 20892-8322
USA
Tel: (301)435-3848
Tel: (800)422-6237
TDD: (800)332-8615
Email: cancergovstaff@mail.nih.gov
Internet: http://www.cancer.gov

International Foundation for Functional Gastrointestinal Disorders
700 W. Virginia St., 201
Milwaukee, WI 53217
USA
Tel: (414)964-1799
Fax: (414)964-7176
Tel: (888)964-2001
Email: iffgd@iffgd.org
Internet: http://www.iffgd.org

Institute for Families
4650 Sunset Blvd Mail stop 111
Los Angeles, CA 90027
USA
Tel: (323)361-4649
Fax: (323)665-7869
Email: info@instituteforfamilies.org
Internet: http://www.instituteforfamilies.org

UNIQUE - Rare Chromosome Disorder Support Group
P.O. Box 2189
Caterham
Surrey, CR3 5GN
United Kingdom
Tel: 4401883330766
Fax: 4401883330766
Email: info@rarechromo.org
Internet: http://www.rarechromo.org

Craniofacial Foundation of America
975 East Third Street
Chattanooga, TN 37403
Tel: (423)778-9176
Fax: (423)778-8172
Tel: (800)418-3223
Email: terry.smyth@erlanger.org
Internet: http://www.craniofacialfoundation.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
TDD: (888)205-3223
Internet: http://rarediseases.info.nih.gov/GARD/

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 orphan@rarediseases.org

Last Updated:  4/10/2009
Copyright  1989, 1996, 2001, 2009 National Organization for Rare Disorders, Inc.

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