Trisomy 22

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Trisomy 22 is a chromosomal disorder in which an individual has three copies of chromosome 22 in each cell instead of the normal two copies.

Pronunciation

Tri-so-my 22

Etymology

The term "Trisomy 22" is derived from the Greek word "trisomia" meaning "triple condition" and the number 22, which refers to the 22nd pair of human chromosomes.

Definition

Trisomy 22 is a genetic disorder that occurs when a person has three copies of the 22nd chromosome instead of the usual two. This extra genetic material disrupts the normal course of development, causing the characteristic features of Trisomy 22.

Symptoms

The symptoms of Trisomy 22 can vary widely, but often include growth retardation, intellectual disability, and distinctive facial features. Other common symptoms include heart defects, kidney abnormalities, and skeletal abnormalities.

Causes

Trisomy 22 is caused by a mistake in cell division during the development of the egg or sperm or during early fetal development. This error leads to an extra copy of chromosome 22 in every cell of the body.

Diagnosis

Trisomy 22 is typically diagnosed through genetic testing, which can identify the extra chromosome. This can be done during pregnancy through amniocentesis or chorionic villus sampling, or after birth through a blood test.

Treatment

There is no cure for Trisomy 22, and treatment focuses on managing the symptoms and improving the quality of life for the individual. This may include physical therapy, educational support, and treatment for any associated medical conditions.

Related Terms

External links

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