22q11.2 duplication syndrome
22q11.2 duplication syndrome
22q11.2 duplication syndrome (pronunciation: twenty-two q eleven point two duplication syndrome) is a rare genetic disorder caused by a duplication of a small piece of chromosome 22. The duplicated segment is located on the long (q) arm of the chromosome at a position designated q11.2.
Etymology
The name 22q11.2 duplication syndrome is derived from the specific location of the duplicated segment on chromosome 22. The "q" refers to the long arm of the chromosome, "11.2" refers to the position on the arm, and "duplication" refers to the genetic abnormality that causes the syndrome.
Symptoms
The symptoms of 22q11.2 duplication syndrome can vary widely, even among members of the same family. Common symptoms include developmental delay, intellectual disability, and characteristic facial features. Some individuals with this syndrome also have heart defects, skeletal abnormalities, and other medical problems.
Related Terms
- Chromosome 22: One of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome.
- Duplication (genetics): A type of mutation that involves the production of one or more copies of any piece of DNA, including sometimes a gene or even an entire chromosome.
- Genetic disorder: A disease caused by abnormalities in an individual's genetic material.
- Developmental delay: A delay in the development of a child who is not meeting the milestones for his or her age.
- Intellectual disability: A disability characterized by significant limitations in both intellectual functioning and in adaptive behavior.
See Also
- 22q11.2 deletion syndrome: A syndrome caused by the deletion of a small piece of chromosome 22. It is the most common deletion syndrome in humans.
References
External Links
External links
- Medical encyclopedia article on 22q11.2 duplication syndrome
- Wikipedia's article - 22q11.2 duplication syndrome
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