Death of Marthe Gautier, co-discoverer of trisomy 21

Marthe Gautier, French doctor co-discoverer of the supernumerary chromosome responsible for trisomy 21, died Saturday at the age of 96, we learned this Monday from Inserm.

Like many women in the fields of science and medicine, her name has long been forgotten, unlike those of her male colleagues, Professors Lejeune and Turpin in the case of the discovery of the chromosome responsible for trisomy 21. C It was from the 2010s that its role was fully recognized.

Demonstration of a supernumerary chromosome

Born in 1925, Marthe Gautier was destined for pediatrics. In the 1950s, she joined the team of Raymond Turpin, a researcher studying Down syndrome, characterized by mental retardation and morphological abnormalities.

Supporter of the hypothesis of a chromosomal origin of this syndrome, he put forward the idea of ​​making cell cultures to count the number of chromosomes in affected children. Marthe Gautier offers to take care of it thanks to the techniques she practiced during a previous training in the United States and which she masters perfectly. It will thus participate in a capital way in the detection of a supernumerary chromosome: it is the discovery of trisomy 21.

Thereafter, the scientist will regret having been put aside of her own discovery in favor of the geneticist Jérôme Lejeune, who died in 1994.

“The place of the forgotten discoverer”

Marthe Gautier declared in 2009 to the magazine La Recherche that she had highlighted the presence of too many chromosomes in people with this syndrome. Professor Lejeune had precisely identified the chromosome involved, she indicated.

When the results of the French team were announced in 1959 in the report of the Academy of Sciences, her name was only mentioned in second place, “the place of the forgotten discoverer, while Jérôme Lejeune is the first author,” she lamented.

However, in “the discovery of the supernumerary chromosome, the part of Jérôme Lejeune (…) is unlikely to have been preponderant”, estimated in 2014 an ethics committee of Inserm (National Institute of Health and medical research).

An “undeniable role”

The part of the geneticist “is undoubtedly very significant in the development of the discovery at the international level, which is different from the discovery itself”, added the ethics committee. “This enhancement cannot exist without the first stage and remains inseparably subordinate to it”.

In a press release, the Jérôme Lejeune Foundation praised Marthe Gautier’s “memory” on Monday, assuring that “her undeniable role as a contributor” in the discovery of the origin of trisomy 21 had “been praised on many occasions” by the geneticist .

At the end of the 1950s, the doctor devoted herself to pediatric cardiology. In 1966, she had created the department of anatomo-pathology of hepatic diseases in children, at the Kremlin-Bicêtre hospital. She has studied throughout her working life different birth defects in infants and children.