22q11.2 deletion syndrome

22q11.2 deletion syndrome

22q11.2 deletion syndrome (pronounced "twenty-two q eleven point two deletion syndrome"), also known as DiGeorge syndrome or velocardiofacial syndrome, is a disorder caused by the deletion of a small piece of chromosome 22. The deletion occurs near the middle of the chromosome at a location designated q11.2.

Etymology

The name 22q11.2 deletion syndrome refers to the specific location on chromosome 22 where a small piece is missing, or deleted. The "q" refers to the long arm of the chromosome, and "11.2" refers to the position on that arm. The syndrome is also named after Dr. Angelo DiGeorge, who first described the condition in 1968, and the term "velocardiofacial" refers to the areas of the body that are often affected by the syndrome.

Symptoms

The symptoms of 22q11.2 deletion syndrome can vary widely, even among members of the same family. Common symptoms include heart defects, poor immune system function, a cleft palate, complications related to low levels of calcium in the blood, and behavioral disorders.

Related Terms

• Chromosome 22: One of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome.
• Deletion (genetics): A mutation (a genetic aberration) in which a part of a chromosome or a sequence of DNA is left out during DNA replication.
• DiGeorge Syndrome: Another name for 22q11.2 deletion syndrome, named after the doctor who first described the condition.
• Velocardiofacial syndrome: Another name for 22q11.2 deletion syndrome, referring to the areas of the body that are often affected by the syndrome.

See Also

• Genetic disorder
• Chromosome deletion
• Congenital heart defect
• Cleft palate

External links

• Medical encyclopedia article on 22q11.2 deletion syndrome
• Wikipedia's article - 22q11.2 deletion syndrome

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