Down syndrome – Genetic Disease

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Down syndrome is a genetic disorder that occurs in 1 in every 800 births (History of Down’s Syndrome, p1). A person with down syndrome has certain facial features and disorders that differ from someone without the disability. The genetic disorder causes many challenges for the person effected, but it does not hinder them from leading a long life.

Down syndrome was previously known as Mongolian Idiocy until 1965 (History of Down’s Syndrome, p1). The name down syndrome came from a man named John Langdon Down, who was the medical superintendent of the Royal Earlswood Asylum for Idiots in Redhill, Surrey (History of Down’s Syndrome, p1). John began examining the plates and tongues of his residents which brought him to the conclusion that 16 cases presented tongues with a sodden appearance (History of Down’s Syndrome, p1). This lead to the discovery of the 3rd copy of chromosome 21 in 1959 (History of Down’s Syndrome, p1).

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Down syndrome is caused by a 3rd copy of chromosome 21 and has 3 different types. According to Amanda Perkins (2017), Trisomy 21 is the most common caused by and error in cell division, referred to as nondisjunction, leading the individual to be born with an extra copy of chromosome 21 (p2). When the cells divide, the extra chromosome is repeated in all cells during trisomy 21 (Perkins, 2017, 2). This means that in every cell in the individuals body, there is an extra copy on the 21st chromosome.

The second form of down syndrome is called translocation. Translocation is a rare form of Down Syndrome where a long strand of the 21st chromosome is attached to chromosome 14 (Perkins,

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