Chromosome 13, Partial Monosomy 13q

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

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

Disorder Subdivisions

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• None

General Discussion

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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

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Children's Craniofacial Association

13140 Coit Road

Suite 307

Dallas, TX 75240

USA

Tel: 2145709099

Fax: 2145708811

Tel: 8005353643

Email: csmith@ccakids.com

Internet: http://www.ccakids.com



March of Dimes Birth Defects Foundation

1275 Mamaroneck Avenue

White Plains, NY 10605

Tel: (914)428-7100

Fax: (914)997-4763

Tel: (888)663-4637

Email: Askus@marchofdimes.com

Internet: http://www.marchofdimes.com



FACES: The National Craniofacial Association

P.O. 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 (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/



Chromosome Deletion Outreach, Inc.

P.O. Box 724

Boca Raton, FL 33429-0724

USA

Tel: 5613954252

Fax: 5613954252

Email: info@chromodisorder.org

Internet: http://www.chromodisorder.org



American Heart Association

National Center

7272 Greenville Avenue

Dallas, TX 75231-4596

Tel: (214)373-6300

Fax: (214)373-0268

Tel: (800)242-8721

Email: inquire@heart.org

Internet: 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

Email: chaser@compuserve.com

Internet: http://www.csun.edu/~hcmth011/chaser/chaser-news.html



National Craniofacial Foundation

3100 Carlisle Street

Suite 215

Dallas, TX 75204

Tel: (800)535-3643



NIH/National Eye Institute

Building 31 Rm 6A32

31 Center Dr MSC 2510

Bethesda, MD 20892-2510

United States

Tel: 3014965248

Fax: 3014021065

Email: 2020@nei.nih.gov

Internet: http://www.nei.nih.gov/



National Cancer Institute

6116 Execuite Blvd, MSC 8322, Rm 3036A

Bethesda, MD 20892-8322

USA

Tel: 3014353848

Tel: 8004226237

TDD: 8003328615

Internet: http://www.cancer.gov



International Foundation for Functional Gastrointestinal Disorders

P.O. Box 170864

Milwaukee, WI 53217

USA

Tel: 4149641799

Fax: 4149647176

Tel: 8889642001

Email: iffgd@iffgd.org

Internet: http://www.iffgd.org



Institute for Families

P.O. Box 54700

Mailstop #111

Los Angeles, CA 90054-0700

USA

Tel: 3236694649

Fax: 3236657869

Email: info@instituteforfamilies.org

Internet: http://www.instituteforfamilies.org



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



Craniofacial Foundation of America

975 East Third Street

Chattanooga, TN 37403

Tel: (423)778-9192

Fax: (423)778-8172

Tel: (800)418-3223

Email: farmertm@erlanger.org

Internet: http://www.craniofacialcenter.com

For a Complete Report

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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:   9/23/2005

Copyright   1989, 1996, 2001 National Organization for Rare Disorders, Inc.