Born September 10th, 1925, in rural France, Marthe Gautier was the fifth of seven children in a family that had been farmers for generations. Marthe, however, had dreams of something bigger. In 1942, Marthe enrolled in medical school in Paris, France, and after completing her medical degree, Gautier started her internship at Hôpitaux de Paris as only one of two women accepted to the program. She completed her four-year internship in pediatric cardiology in 1955 with a dissertation on rheumatic fever in infants. This gained the interest of Harvard, and a one-year scholarship to the Harvard Medical School to continue her work on rheumatic fever, while also working as a lab technician and eventually lab manager.
In 1956, she returned to France to work at Armand-Trousseau Hospital under Raymond Turpin. Turpin had previously focused on Down Syndrome and had hypothesized that Down syndrome may be linked to chromosomal abnormalities, but lacked the knowledge needed to analyze chromosomes. Fortunately, Marthe had just returned from her work in labs and offered her experience to test Turpin’s theory. With no financial support, Marthe used her own funds and resources to prepare the cells; she spent four months counting the chromosomes of patients without Down syndrome to ensure her process was successful. In 1958, two years after beginning her work with Turpin, she finally began to work with cells from a patient who had Down syndrome. She repeated the same process as before, prepping the cells and counting the chromosomes; only this time she didn’t count 46; she counted 47 chromosomes. The 47th chromosome changed the understanding of Down syndrome. Unfortunately, Marthe lacked access to the equipment needed to photograph what she had found, so she entrusted her discovery to Jérôme Lejeune, the protégé of Turpin.
Soon after, without Gautier’s knowledge, Lejeune presented her findings at the International Congress of Genetics in Montreal with no acknowledgement of Marthe’s contribution, though it is important to note that while Marthe Gautier identified the 47th chromosome, Lejeune was the one to determine that the extra chromosome was on the 21st pair. The findings were officially published in January 1959 in The French Academy of Sciences as “Human chromosomes in tissue cultures” by J. Lejeune, M. Gautier and R. Turpin. Marthe received notice one week before the paper was published and was allowed to make corrections on her own research.
Following the release of the work, Lejeune received an abundance of praise and was bestowed numerous awards, even gaining the title of “father of trisomy 21”. Following his passing, the Jérôme Lejeune Foundation was created in his memory with the purpose of supporting and continuing research on Down syndrome. Meanwhile, Marthe remained silent for fear of backlash and being blacklisted. Marthe went on to continue her original work in pediatric cardiology on rheumatic Fever. In January of 2014, more than 50 years after her discovery, at the age of 88, Marthe was set to be publicly awarded for her involvement in finding the 47th chromosome by the French Foundation for Human Genetics; however, the ceremony was held privately, as the Jérôme Lejeune Foundation showed with a court order claiming her words would degrade the legacy of Lejeune. Later that year, though, Gautier finally received the acknowledgement she deserved when the ethics committee from INSERM, the French National Institute of Health and Medical Research, announced that without Marthe’s work, Lejeune’s discovery could not have been made. Finally, after more than fifty years of being forgotten and ignored, her work was acknowledged, and eight years later, on April 30th, 2022, Marthe Gautier was laid to rest.
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