Chromosome 15, Distal Trisomy 15qNational Organization for Rare Disorders, Inc.
Important
General DiscussionChromosome 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. Supporting OrganizationsAmerican Heart Association
Children's Craniofacial Association
Dup 15q Alliance
Genetic and Rare Diseases (GARD) Information Center
March of Dimes
NIH/National Institute of Neurological Disorders and Stroke
Support Organization for Trisomy 18, 13, and Related Disorders
The Arc
UNIQUE - Rare Chromosome Disorder Support Group
For a Complete ReportThis 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".
|
 |
Search the
Healthwise Knowledgebase This information does not replace the advice of a doctor. Healthwise, Incorporated, disclaims any warranty or liability for your use of this information. Your use of this information means that you agree to the Terms of Use. Learn how we develop our content. Healthwise, Healthwise for every health decision, and the Healthwise logo are trademarks of Healthwise, Incorporated. |
Chromosome 15, Distal Trisomy 15qNational Organization for Rare Disorders, Inc. |
|
|
