8p23.1 duplication syndrome
8p23.1 duplication syndrome
8p23.1 duplication syndrome (pronunciation: eight p twenty-three point one duplication syndrome) is a rare genetic disorder characterized by a variety of physical and developmental abnormalities. The syndrome is caused by a duplication of genetic material on the short (p) arm of chromosome 8 at a location designated p23.1.
Etymology
The name "8p23.1 duplication syndrome" is derived from the location of the genetic abnormality that causes the syndrome. The number "8" refers to chromosome 8, "p" refers to the short arm of the chromosome, "23.1" refers to the specific band of the chromosome where the duplication occurs, and "duplication" refers to the genetic material that is abnormally duplicated.
Symptoms and Signs
Individuals with 8p23.1 duplication syndrome often exhibit a range of symptoms, including intellectual disability, developmental delay, distinctive facial features, heart defects, and other physical abnormalities. However, the severity and specific symptoms can vary widely among affected individuals.
Genetics
8p23.1 duplication syndrome is caused by a duplication of genetic material on the short (p) arm of chromosome 8. This duplication can occur as a random event during the formation of reproductive cells or early in embryonic development. In some cases, an affected person inherits the duplication from a parent who also has the duplication.
Diagnosis
Diagnosis of 8p23.1 duplication syndrome is typically made through genetic testing, which can identify the characteristic duplication of genetic material on chromosome 8.
Treatment
There is currently no cure for 8p23.1 duplication syndrome. Treatment is symptomatic and supportive, and may include physical therapy, educational support, and management of any heart defects or other physical abnormalities.
See Also
External links
- Medical encyclopedia article on 8p23.1 duplication syndrome
- Wikipedia's article - 8p23.1 duplication syndrome
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