Chromosome 15, Distal Trisomy 15q
National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Chromosome 15, Distal Trisomy 15q is not the name you expected.
Chromosome 15, Distal Trisomy 15q is an extremely rare chromosomal disorder in which the end (distal) portion of the long arm (q) of the 15th chromosome (15q) appears three times (trisomy) rather than twice in cells of the body. The disorder is characterized by growth delays before and/or after birth (prenatal and/or postnatal growth retardation); mental retardation; and/or distinctive malformations of the head and facial (craniofacial) area. Additional abnormalities typically include an unusually short neck; malformations of the fingers and/or toes; abnormal sideways curvature of the spine (scoliosis) and/or other skeletal malformations; genital abnormalities, particularly in affected males; and/or, in some cases, heart (cardiac) defects. The range and severity of symptoms and physical findings may vary from case to case, depending upon the length and location of the duplicated portion of chromosome 15q. In most cases, Chromosome 15, Distal Trisomy 15q is due to a chromosomal balanced translocation in one of the parents.
American Heart Association
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Children's Craniofacial Association
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Dup 15q Alliance
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- Fayetteville, NY 13066
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- Website: http://www.dup15q.org
Genetic and Rare Diseases (GARD) Information Center
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March of Dimes
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NIH/National Institute of Neurological Disorders and Stroke
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Support Organization for Trisomy 18, 13, and Related Disorders
- 2982 S. Union Street
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UNIQUE - Rare Chromosome Disorder Support Group
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For a Complete Report
This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, 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.
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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.
Last Updated: 4/10/2009
Copyright 2009 National Organization for Rare Disorders, Inc.
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