Chromosome 10, Monosomy 10p

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Important

It is possible that the main title of the report Chromosome 10, Monosomy 10p 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

• 10p Deletion Syndrome (Partial)
• Chromosome 10, Partial Deletion (short arm)
• Chromosome 10, 10p- Partial

Disorder Subdivisions

• None

General Discussion

Chromosome 10, Monosomy 10p is a rare chromosomal disorder in which the end (distal) portion of the short arm (p) of chromosome 10 is missing (deleted or monosomic). The range and severity of symptoms and findings may be variable, depending upon the exact size or location of the deletion on chromosome 10p. However, associated features often include severe mental retardation; growth delays after birth (postnatal growth retardation); distinctive malformations of the skull and facial (craniofacial) region; a short neck; and/or structural defects of the heart that are present at birth (congenital heart defects). Several cases have also been reported in which affected individuals have some features of DiGeorge syndrome (DGS). DGS is a congenital disorder characterized by underdevelopment or absence of the thymus and parathyroid glands, potentially causing abnormalities of the immune system, deficient production of parathyroid hormone (hypoparathyroidism), a heart defect, and associated findings. In many cases, Chromosome 10, Monosomy 10p appears to occur spontaneously (de novo) for unknown reasons.

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Resources

Children's Craniofacial Association

13140 Coit Road

Suite 517

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



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/



AmeriFace

PO Box 751112

Las Vegas, NV 89136

USA

Tel: 7027699264

Fax: 7023415351

Tel: 8884861209

Email: info@ameriface.org

Internet: http://www.ameriface.org



Immune Deficiency Foundation

40 West Chesapeake Avenue

Suite 308

Towson, MD 21230

Tel: (410)321-6647

Fax: (410)321-9165

Tel: (800)296-4433

Email: idf@primaryimmune.org

Internet: http://www.primaryimmune.org



Alexander Graham Bell Association for the Deaf, Inc.

3417 Volta Place, NW

Washington, D.C. 20007-2778

United States

Tel: 2023375220

Fax: 2023378314

Tel: 8663375220

Email: info@agbell.org

Internet: http://www.agbell.org



Chromosome Disorder 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



NIH/National Digestive Diseases Information Clearinghouse

2 Information Way

Bethesda, MD 20892-3570

Tel: (301)654-3810

Fax: (301)907-8906

Tel: (800)891-5389

Email: nddic@info.niddk.nih.gov

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



NIH/National Institute on Deafness and Other Communication Disorders (Balance)

National Temporal Bone, Hearing

and Balance Pathology Resource Registry

Massachusetts Eye & Ear Infirmary

243 Charles Street

Boston, MA 02114-3096

Fax: (617)573-3838

Tel: (800)822-1327

TDD: (888)561-3277

Email: TBRegistry@meei.harvard.edu

Internet: http://www.tbregistry.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



European Society for Immunodeficiencies (ESID)

c/o Dr. Esther de Vries

Jeroen Bosch Hospital

Dept. Paediatrics

P.O. Box 90153

Hertogenbosch, 5200 ME's

Netherlands

Tel: +31 73-6992965

Fax: +31 73-6992948

Email: info@esid.org

Internet: http://www.esid.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:  5/13/2008

Copyright  1996, 2001, 2003 National Organization for Rare Disorders, Inc.

Last updated:	May 13, 2008