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Who Discovered Down Syndrome?

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John Langdon Haydon Down, a British physician, was the first person to observe the Down syndrome as a special kind of mental disability. Though he only observed the symptoms and outcome of the disease, largely emphasizing on the mental affects and not the physical cause and reasons of the disease, the discovery of Down syndrome is mostly credited to him. In fact, the syndrome was named after him. Other notable scientists have also contributed in the discovery process.

John Langdon Haydon DownJohn Langdon Haydon Down was born in Torpoint, Cornwall. He also has a street named after him called Langdon Down Way.

John Down

John Down was born on November 18th, 1828. He studied medicine at the Royal London Hospital. He was considered as one of the most outstanding student in his class. He served as the Medical Superintendent at the Royal Earlswood Hospital in Surrey and worked closely with the mentally disable people.

Originally called the Mongolian idiocy

He developed a theory that children with Down syndrome have common physical characteristics, having an almost similar look to the Mongolian race. As a result, the disease was termed as “Mongolian idiocy” or “Mongolism” and patients were referred to as “Mongoloids.” He wrote a paper about his findings titled “Observations on the Ethnic Classification of Idiots” in 1866. In the early 20th century, Down syndrome became one of the most common mental disabilities in America and some other parts of the world, though the cause of the disease was still unknown.

Discovering the cause of Down syndrome

When karyotype techniques were discovered in 1950, the observation and study of abnormalities in chromosomal number or shape became possible. With the help of this process, Jérôme Lejeune discovered the cause of Down syndrome as having one extra chromosome. In 1961, The Lancet magazine supported the claim of eighteen geneticists who wanted to rename the term “Mongolian idiocy” to “Down syndrome”. WHO dropped the previous name and started to use of term Down syndrome from 1965.

More on down syndrome: Facts about down syndrome.