Jacobs

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Jacobs Syndrome

Jacobs Syndrome (pronounced: jay-kubs sin-drohm), also known as 47,XYY Syndrome or XYY Karyotype, is a rare genetic condition that affects males.

Etymology

The condition is named after its discoverer, Dr. Patricia Jacobs, a British human geneticist who first described the syndrome in 1965. The term "syndrome" is derived from the Greek word "syndromē", which means "concurrence of symptoms".

Definition

Jacobs Syndrome is characterized by the presence of an extra Y chromosome in each of a male's cells. Males typically have one X and one Y chromosome (46,XY), but males with Jacobs Syndrome have an extra Y chromosome, resulting in a 47,XYY karyotype.

Symptoms

Individuals with Jacobs Syndrome may exhibit a variety of symptoms, including physical growth delays, learning disabilities, behavioral problems, and distinctive facial features. However, many males with Jacobs Syndrome do not have any symptoms and live normal lives.

Causes

Jacobs Syndrome is caused by a random error in cell division during the formation of sperm cells. This error leads to the presence of an extra Y chromosome in each of a male's cells.

Diagnosis

Jacobs Syndrome can be diagnosed through a genetic test known as a karyotype. This test involves taking a blood sample and analyzing the chromosomes in the blood cells.

Treatment

There is no cure for Jacobs Syndrome, but treatment can help manage symptoms. This may include physical therapy, speech therapy, and educational support.

Related Terms

External links

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