Down's syndrome

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Down's Syndrome

Down's Syndrome (pronounced: /daʊnz/), also known as Trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. It is typically associated with physical growth delays, characteristic facial features, and mild to moderate intellectual disability. The average IQ of a young adult with Down's Syndrome is 50, equivalent to the mental ability of an 8 or 9-year-old child, but this varies widely.

Etymology

The condition is named after John Langdon Down, the British doctor who fully described the syndrome in 1866. The term "syndrome" comes from the Greek "σύνδρομον," meaning "concurrence."

Symptoms and Characteristics

People with Down's Syndrome may have some or all of the following physical characteristics: a small chin, slanted eyes, poor muscle tone, a flat nasal bridge, a single crease of the palm, and a protruding tongue due to a small mouth and relatively large tongue. These individuals may also have a short neck and small hands and feet.

Causes

Down's Syndrome results from an error during cell division that leads to an extra 21st chromosome, either in whole (Trisomy 21) or in part (such as due to Robertsonian translocation). The extra genetic material disrupts the normal course of development, causing the characteristic features of Down's Syndrome.

Diagnosis

Down's Syndrome can be identified during pregnancy by prenatal screening or diagnosed after birth by direct observation and genetic testing. Since the introduction of screening, pregnancies with the diagnosis are often terminated.

Management

There is no cure for Down's Syndrome. Education and proper care have been shown to improve quality of life. Some children with Down's Syndrome are educated in typical school classes, while others require more specialized education. Some individuals with Down's Syndrome graduate from high school, and a few attend post-secondary education.

Epidemiology

Down's Syndrome occurs in about 1 per 1,000 babies born each year. It is more common in babies born to older mothers, due to increased risk of genetic issues with age.

See Also

External links

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