Chromosome 10, Distal Trisomy 10q

Important
It is possible that the main title of the report Chromosome 10, Distal Trisomy 10qis not the name you expected.

Synonyms

Chromosome 10, Trisomy 10q2
Chromosome 10, Partial Trisomy 10q24-qter
Distal Duplication 10q
Dup(10q) Syndrome
Distal Trisomy 10q Syndrome

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); severe mental retardation; and 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
800: (800)535-3643
csmith@ccakids.com
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
800: (800)716-7638
barbv@trisomy.org
http://www.trisomy.org

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

Forward Face, Inc.
317 East 34th Street
Room 901
New York
NY
10016
Tel: (212)684-5860
Fax: (212)684-5864
800: (800)393-3223
info@forwardface.org
http://www.forwardface.org

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

Congenital Heart Anomalies, Support, Education, & Resources
2112 North Wilkins Road
Swanton
OH
43558
Tel: (419)825-5575
Fax: (419)825-2880
chaser@compuserve.com
http://www.csun.edu/~hcmth011/chaser/chaser-news.html

National Craniofacial Foundation
3100 Carlisle Street
Suite 215
Dallas
TX
75204
800: (800)535-3643NIH/National Heart, Lung and Blood Institute Information Center
P.O. Box 30105
Bethesda
MD
20824-0105
Tel: (301)592-8573
Fax: (301)251-1223
nhlbiinfo@rover.nhlbi.nih.govNIH/National Kidney and Urologic Diseases Information Clearinghouse
3 Information Way
Bethesda
MD
20892-3580
800: (800)891-5390
nkudic@info.niddk.nih.gov
http://kidney.niddk.nih.gov/

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
info@rarechromo.org
http://www.rarechromo.org

Craniofacial Foundation of America
975 East Third Street
Chattanooga
TN
37403
Tel: (423)778-9192
Fax: (423)778-8172
800: (800)418-3223
farmertm@erlanger.org
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: 4/10/2009
Copyright 1997, 2000, 2001, 2005, 2009 National Organization for Rare Disorders, Inc.

WebMD Medical Reference from the National Organization of Rare Disorders

Last Updated: April 10, 2009

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