Chromosome 6, Partial Trisomy 6q

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Important

It is possible that the main title of the report Chromosome 6, Partial Trisomy 6q 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

• Chromosome 6, Trisomy 6q2
• Trisomy 6q Syndrome, Partial
• 6q+ Syndrome, Partial
• Trisomy 6q, Partial
• Distal Trisomy 6q
• Duplication 6q, Partial
• Distal Duplication 6q

Disorder Subdivisions

• None

General Discussion

Chromosome 6, Partial Trisomy 6q is an extremely rare chromosomal disorder in which a portion of the 6th chromosome (6q) is present three times (trisomy) rather than twice in cells of the body. Associated symptoms and findings may vary in range and severity from case to case. However, many affected infants and children have slow physical development (growth retardation); mental retardation; malformations of the skull and facial (craniofacial) region; an unusually short, webbed neck; abnormal bending (flexion) or extension of certain joints in fixed postures (joint contractures); and/or other physical abnormalities. In most cases, Chromosome 6, Partial Trisomy 6q has been the result of a balanced translocation in one of the parents.

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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



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)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



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



Spotlight 6

2617 Ted Toad Road

Rising Sun, MD 21911

Tel: (410)658-6264



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

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:  5/30/2008

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

Last updated:	May 30, 2008