Jacobsen syndrome

Jacobsen Syndrome

Jacobsen Syndrome (pronounced: jay-kob-sen sin-drome), also known as 11q deletion disorder or 11q-, is a rare genetic disorder caused by a deletion in one of the two copies of chromosome 11. The syndrome is named after the Danish physician Petrea Jacobsen, who first identified the condition in 1973.

Etymology

The term "Jacobsen Syndrome" is derived from the name of the physician who first described the condition, Petrea Jacobsen. The term "11q deletion disorder" refers to the specific genetic mutation that causes the syndrome, which is a deletion in the long arm (q) of chromosome 11.

Symptoms

Individuals with Jacobsen Syndrome may exhibit a variety of symptoms, including intellectual disability, behavioral problems, distinctive facial features, heart defects, and bleeding disorders. The severity and combination of symptoms can vary widely from person to person.

Diagnosis

Jacobsen Syndrome is typically diagnosed through genetic testing, which can identify the characteristic deletion in chromosome 11. This can be done through a variety of methods, including karyotyping, fluorescence in situ hybridization (FISH), and microarray analysis.

Treatment

There is currently no cure for Jacobsen Syndrome, and treatment is focused on managing the individual symptoms. This may include physical therapy, speech therapy, occupational therapy, and medication for heart defects and bleeding disorders.

Prognosis

The prognosis for individuals with Jacobsen Syndrome can vary widely, depending on the severity of their symptoms. However, with appropriate treatment and support, many individuals with Jacobsen Syndrome can lead fulfilling lives.

External links

Medical encyclopedia article on Jacobsen syndrome
Wikipedia's article - Jacobsen syndrome

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Jacobsen syndrome