Marthe Gautier

Marthe Gautier (10 September 1925 – 30 April 2022) was a French medical doctor and researcher. She discovered the cause of Down syndrome being the existence of a third instance of chromosome 21 in 1958, after which the disorder was given the additional name trisomy 21. This discovery made it possible to prenatally diagnose the disorder. A colleague of hers, Jérôme Lejeune, took full credit for the discovery. In 2009, she published a testimony of her own role in the discovery.

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