Trisomy 13

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Trisomy 13

Trisomy 13, also known as Patau syndrome (pronounced: puh-TOW), is a genetic disorder in which a person has three copies of genetic material from chromosome 13, instead of the usual two copies. The etymology of the term comes from the Greek words "tris-", meaning "three", and "-somy", meaning "body" (referring to chromosomes), and "13" referring to the specific chromosome that is triplicated.

Causes

Trisomy 13 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 a zygote. The result is an embryo with an extra copy of chromosome 13 in each of its cells.

Symptoms

Symptoms of Trisomy 13 can vary widely among individuals, but common symptoms include intellectual disability, microcephaly (small head), polydactyly (extra fingers or toes), cleft lip or cleft palate, and congenital heart defects.

Diagnosis

Trisomy 13 can be diagnosed before birth through prenatal testing such as amniocentesis or chorionic villus sampling. After birth, a diagnosis can be confirmed through a karyotype test, which analyzes the child's chromosomes.

Treatment

There is no cure for Trisomy 13, and treatment focuses on managing symptoms and improving quality of life. This may include surgeries to correct physical abnormalities, therapies to improve developmental skills, and supportive care to manage other health issues.

Prognosis

The prognosis for individuals with Trisomy 13 is generally poor, with many infants not surviving past the first few weeks or months of life. However, some individuals with less severe forms of the condition may live into adolescence or adulthood.

See also

External links

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