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Chromosome 10, Distal Trisomy 10q

National Organization for Rare Disorders, Inc.

Important
It is possible that the main title of the report Chromosome 10, Distal Trisomy 10q 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

  • dup(10q) syndrome
  • distal trisomy 10q syndrome
  • distal duplication 10q
  • chromosome 10, trisomy 10q2
  • chromosome 10, partial trisomy 10q24-qter

Disorder Subdivisions

  • None

General Discussion

Chromosome 10, distal trisomy 10q is an extremely rare chromosomal disorder in which the end (distal) portion of the long arm (q) of one chromosome 10 (10q) appears three times (trisomy) rather than twice in cells of the body. The disorder is characterized by unusually slow growth before and after birth (prenatal and postnatal growth retardation); abnormally diminished muscle tone (hypotonia); mild to severe mental retardation; and mild to severe delays in the acquisition of skills requiring coordination of mental and muscular activities (psychomotor retardation). Affected infants and children may also have distinctive malformations of the head and facial (craniofacial) area; defects of the hands and/or feet; and/or skeletal, heart (cardiac), kidney (renal), and/or respiratory (pulmonary) abnormalities. The range and severity of symptoms and physical findings may vary from case to case, depending upon the exact length and location of the duplicated portion of chromosome 10q. In most cases, chromosome 10, distal trisomy 10q is due to a chromosomal balanced translocation in one of the parents.

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

Support Organization for Trisomy 18, 13, and Related Disorders
2982 S. Union Street
Rochester, NY 14624-1926
Fax: (585)594-1957
Tel: (800)716-7638
Email: barbv@trisomy.org
Internet: http://www.trisomy.org

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

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/

NIH/National Heart, Lung and Blood Institute
P.O. Box 30105
Bethesda, MD 20892-0105
Tel: (301)592-8573
Fax: (301)251-1223
Email: nhlbiinfo@rover.nhlbi.nih.gov
Internet: http://www.nhlbi.nih.gov/

NIH/National Kidney and Urologic Diseases Information Clearinghouse
3 Information Way
Bethesda, MD 20892-3580
Fax: (703)738-4929
Tel: (800)891-5390
TDD: (866)569-1162
Email: nkudic@info.niddk.nih.gov
Internet: http://www.kidney.niddk.nih.gov/

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

Distal Trisomy 10q Families
Tel: (541) 754-8518
Email: trisomy10q@darylanderson.com
Internet: http://www.home.comcast.net/~daryl59/10q/

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:  3/1/2012
Copyright  1997, 2000, 2001, 2005, 2009, 2012 National Organization for Rare Disorders, Inc.

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