Trisomy 22

Trisomy 22 is a chromosome disorder in which an individual has an extra copy of chromosome 22. This condition is a type of aneuploidy and is often associated with miscarriage, stillbirth, and birth defects.

Causes

Trisomy 22 is caused by a mistake in cell division called nondisjunction. This error can occur in either the sperm or the egg before they combine to form an embryo. The resulting embryo has three copies of chromosome 22 instead of the usual two.

Symptoms

The symptoms of Trisomy 22 can vary widely, depending on how many cells have the extra chromosome and where those cells are in the body. Common symptoms include growth retardation, microcephaly (small head), hypertelorism (wide-set eyes), cleft palate, heart defects, and mental retardation.

Diagnosis

Trisomy 22 can be diagnosed before birth through prenatal testing. This can include amniocentesis or chorionic villus sampling (CVS). After birth, the condition can be diagnosed through a karyotype test, which examines the number and structure of a person's chromosomes.

Treatment

There is no cure for Trisomy 22. Treatment is focused on managing the symptoms and improving the quality of life for the individual. This can include physical therapy, occupational therapy, speech therapy, and special education services.

Prognosis

The prognosis for individuals with Trisomy 22 varies widely, depending on the severity of symptoms and the presence of other health conditions. Many individuals with Trisomy 22 have a shortened life expectancy due to the associated health problems.

See also

• Chromosome abnormalities
• Genetic disorders
• Prenatal diagnosis

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