Death of Marthe Gautier, discoverer of chromosome at origin of Down’s syndrome

Pediatrician, she had uncovered the presence of an additional chromosome in children with “Mongolism”. In 2009, she told how Professor Lejeune had assigned this major discovery. She died on April 30, at the age of 96.

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In an ideal world, Marthe Gautier would have completed her life covered with glory and the most prestigious scientific prices. In the world of scientific research, his name appears as a case of school of the “Matilda effect”, which consists in attributing to men the merits returning to women. The “forgotten discovereter” of the chromosomal origin of Down’s syndrome, as herself had finally qualified, died in her sleep, Saturday April 30, in Meaux (Seine-et-Marne), at the age of 96 years.

Nothing predestined this girl of farmers, born September 10, 1925, in Montenils (Seine-et-Marne), fifth child of a siblings of seven, to become a doctor. Nothing except the fierce will of his mother that her daughters are studying and her vocation for pediatrics. His older sister, who completes her boarding school, paved the way for him. But the latter was killed during the Liberation of Paris, in 1944.

Marthe Gautier finds an additional motivation there. If her main inclination carries her towards care, she listens to her mentor, Robert Debré, under which she supported her thesis in pediatric cardiology, and leaves, a year, at Harvard University to perfect her knowledge. On the way back, a position was promised to him at Bicêtre Hospital. But the chair was taken. It is therefore at the Trousseau hospital, in the service of Professor Raymond Turpin, that she lands.

relegated to second place

Mandarin is passionate about malformative syndromes, and particularly “Mongolism”. He leans for a chromosomal origin. But the research is still in the infancy. We have just established the number of human chromosomes and no French laboratory practices cell culture. “With my American experience, I propose to make it my business, if I am given a local,” she will tell, in a text published in 2009, in the journal Medicine/Sciences.

Three parts, a little equipment, no credits: the researcher must make a personal loan. To establish her protocol, she draws plasma on a rooster, which she raises from the Jardins de Trousseau. And for the human serum, she takes her own blood. When the experience proper comes, the neighboring surgery service provides the samples. Under the lens of the microscope, the cells of children not suffering from Down’s syndrome have 46 chromosomes. But on those of a sick child, Marthe Gautier counts one more.

To publish, you need images. Trousseau does not have the necessary equipment. Jérôme Lejeune, research manager at the CNRS in the service, proposes to take care of it in another laboratory. And in October 1958, he announced the discovery, during a genetic seminar in Montreal. An article is published in the process in the reports of the Academy of Sciences. The uses want the main investigator to appear as the first author, the boss last. Marthe Gautier discovers that Raymond Turpin closes the walking well but that the pole position is occupied by Jérôme Lejeune. She is relegated to second place, under the doubly faulty name of “Marie Gauthier”. Jérôme Lejeune “will therefore appear on the international scientific scene as the discoverer of the first human trisomy”, she writes.

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/Media reports.