47,XYY syndrome

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47,XYY Syndrome

47,XYY Syndrome (pronounced "forty-seven, X Y Y syndrome"), also known as Jacob's Syndrome, is a genetic condition found in males where they have an extra Y chromosome.

Etymology

The name "47,XYY Syndrome" is derived from the abnormality in the karyotype of affected individuals, which features an extra Y chromosome, resulting in a total of 47 chromosomes instead of the usual 46. The condition is also named after Dr. Patricia Jacobs, who first described it in 1965.

Definition

47,XYY Syndrome is a chromosomal condition that affects males and is characterized by the presence of an extra Y chromosome. Normal males have 46 chromosomes including one X and one Y chromosome. Males with 47,XYY Syndrome have 47 chromosomes, two of which are Y chromosomes.

Symptoms

Symptoms of 47,XYY Syndrome can vary, but common features include tall stature, learning difficulties, behavioral problems, and delayed speech and language skills. Some males with the condition show no symptoms and lead normal lives, while others may require support for learning and behavioral issues.

Causes

47,XYY Syndrome is caused by a random error in cell division during the formation of sperm, which results in a sperm cell with an extra Y chromosome. This condition is not inherited and usually occurs as a random event during the formation of reproductive cells.

Diagnosis

Diagnosis of 47,XYY Syndrome is usually made through a blood test called a karyotype. This test examines the size, shape, and number of chromosomes in a sample of body cells.

Treatment

There is no cure for 47,XYY Syndrome, but treatments can help manage symptoms. This may include speech and occupational therapy for developmental issues, and educational support for learning difficulties.

Related Terms

External links

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