How Marthe Gauthier, Who Discovered Trisomy 21, Was Robbed

Reserved for subscribers

This is theft. In 1958, the young scientist discovers the existence of a third chromosome 21. But one of her colleagues is going to test her work in disguise.

by Frederick Luino

IHis relationship began in 1955 when young Marthe Gauthier, 30, was appointed head of the clinic at the Hospital Trousseau in the Pediatric Unit headed by Professor Raymond Turpin. She had just spent a year at Harvard studying pediatric cardiology and took the opportunity to learn about cell culture, which is still little known in France. In 1958, Raymond Turpin suggested that he perform a mongoloid cell culture (as they said at the time) to try and check if the disease was indeed of genetic origin.

Marthe Gautier was able to perform cell cultures and get the chromosomes concentrated so that they become visible. And then you start: …, 42, 43, 44, 45, 46, 47! One more than normal count. Everyone knows that the general …