|Photo source: Le Monde|
For this work she was given a disused laboratory with a fridge, a centrifuge, and a poor quality microscope, but no funding. And of course she still had her other responsibilities. But she was keen and resourceful, so she took out a personal loan to buy glassware, kept a live cockerel as a source of serum, and used her own blood when she needed human serum.
By the end of 1957 she had everything working with normal human cells, and could clearly distinguish the 46 chromosomes. So she asked Prof. Turpin for the patient sample. After 6 months wait it arrived, and she quickly was able to prepare slides showing that it had not 46 but 47 chromosomes, with three copies of a small chromosome. But her microscope was very poor, and she could not identify the chromosome or take the photographs of her slides that a publication would need.
All this time Prof. Turpin had never visited her lab, but she'd had frequent visits from a protege of his, Jerome Lejeune. When she showed Lejeune her discovery, he offered to take the slides to another laboratory where they could be photographed. She never saw the slides again, but the photographs appeared in Montreal two months later (August 1958), where Lejeune announced to the International Conference of Human Genetics in Montreal that he had discovered the cause of Down syndrome! Lejeune and Turpin quickly wrote up 'their' discovery, with Gautier as middle author, but Gautier only learned about this publication the day before it appeared in print.
These were tough times for a woman scientist in France, and Gautier decided not to fight for the credit for her discovery, instead returning to her clinical and teaching work on congenital heart diseases.
Lejeune became not just a renowned researcher but the darling of the French Catholic right-to-life movement. You can read long flattering Wikipedia biographies in both French and English. He was showered with awards and given a prestigious Chair of Human Genetics at the Paris School of Medicine, bypassing the usual competition.
When prenatal diagnosis became available Lejeune campaigned against it on religious grounds. He became a friend of Pope John Paul II and was appointed President of the Pontifical Academy for Life (Wikipedia), the Catholic think-tank for medical ethics. He died in 1994. The Fondation Jerome-Lejeune was established in his honour; there's an American branch too. This foundation provides funds for research into Down syndrome and support for families and patients, but only in the context of very strong opposition to abortion. They're also campaigning to have Lejeune beatified by the Vatican.
But Gautier's role in the discovery of trisomy 21 was not totally forgotten. It has been very well described in a 2009 article in the journal Human Genetics by Gautier and Peter Harper, the author of a major history of cytogenetics (paywalled but try this link to a pdf), and in a 2013 interview. There's also a French Wikipedia page about her. But few people in the field know about this injustice, and cytogenetics textbooks and courses still credit Lejeune for the discovery. Gautier has no English Wikipedia page, and the Wikipedia pages on Lejeune describe her contribution as follows:
"Using a new tissue culture technique brought back from the United States by his colleague Marthe Gautier, Lejeune began working with her to count the number of chromosomes in children with Down syndrome. The laboratory notebook begun by Dr. Lejeune on July 10, 1957 indicates that on May 22, 1958, he succeeded in showing, for the first time, the presence of 47 chromosomes in a child with Down syndrome."Not surprisingly, the Fondation Jerome-Lejeune strongly opposes any correction of the scientific record, since this would reveal the intellectual theft at the base of their hero's reputation. That's why they sent in the bailiffs to record her award ceremony.
I'm of course outraged to learn about this situation, and this post is one attempt to set the record straight. My other venue is Wikipedia, which I've been learning to edit. So far I've added sentences crediting Gautier with the discovery to the Wikipedia entries on Down Syndrome and on Jerome Lejeune. Someone else had added a mention of the dispute to his French entry. I'm going to expand these each into a paragraph. I've also created an empty page for Marthe Gautier and requested that the Wikipedia translation people fill it from her French entry.
So please spread the word. Marthe Gautier discovered that trisomy 21 is the cause of Down syndrome, and Jerome Lejeune's saintly reputation is based on scientific fraud.
Later: I've corrected an error: Gautier could not identify the trisomic chromosome with her poor microscope. And here are links to news articles about this controversy, in Nature and Science.