Tetrasomy 9p

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Tetrasomy 9p

Tetrasomy 9p (pronunciation: te-tra-so-me nine-p) is a rare chromosomal disorder that is characterized by the presence of four copies (tetrasomy) of the short arm (p) of chromosome 9 in some cells of the body.

Etymology

The term "Tetrasomy 9p" is derived from the Greek word "tetra" meaning four, and "somy" from "soma" meaning body. The "9p" refers to the short arm of the chromosome 9.

Definition

Tetrasomy 9p is a genetic disorder that results from the presence of an extra two copies of the short arm of chromosome 9. This results in a total of four copies of these genetic materials instead of the usual two. The disorder is associated with a range of physical abnormalities, developmental delays, and intellectual disabilities.

Symptoms

The symptoms of Tetrasomy 9p can vary greatly among affected individuals. Common symptoms include growth retardation, microcephaly (small head size), hypotonia (low muscle tone), and distinctive facial features such as a prominent forehead, wide-set eyes, and a broad nasal bridge. Other symptoms may include heart defects, kidney abnormalities, and seizures.

Diagnosis

Diagnosis of Tetrasomy 9p is typically made through a type of genetic testing known as karyotyping. This test can identify the presence of the extra copies of the short arm of chromosome 9 in the cells of the body.

Treatment

There is currently no cure for Tetrasomy 9p. Treatment is symptomatic and supportive, and may include physical therapy, special education, and medications to manage symptoms such as seizures.

Related Terms

External links

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