Marthe Gautier

She was promoted to Commander of the National Order of Merit on 15 November 2018.

On 31 January 2014, Gautier was due to speak about her role in the discovery at the seventh biennial congress on human and medical genetics in Bordeaux, and to receive the grand prize of the French Federation of Human Genetics. The Jérôme Lejeune Foundation obtained authorisation from the Bordeaux Tribunal de Grande Instance for bailiffs to be sent to film this session. At the last minute, concerned that the recording might be used in legal proceedings it could not afford to defend, the congress organizers decided to cancel her presentation and she received her award privately instead.

The ethics committee of the INSERM has issued a note in July 2014, reminding of the decisive role of Marthe Gautier, and has built upon this case to remind of the international rules currently in vigor for scientific publications and authors list. The note precises that "history of discovery is not identical to the history of science, and the process of validating knowledge remains very different«. The technical approach is a necessary condition for discovery- key role of Marthe Gautier : but quite often it must be extended to make recognition emerge – priori contribution of Raymond Turpin and thereafter Jérôme Lejeune. As the discovery of trisomy would have been impossible without the mandatory contributions of Raymond Turpin and Marthe Gautier, it is regrettable that their names were not systematically associated with this discovery, as much in terms of communication but also in the assignment of various awards and distinctions."

Marthe Gautier was directly appointed to the rank of Officer of the French Legion of Honor and was decorated on 16 September 2014. Marthe Gautier has, in the past, declined this distinction twice before consenting to it "by indignation towards the impudence of the Lejeune Foundation".

In April 1960, the condition was named trisomy 21. As of 1970 the Lejeune foundation started to promote the discovery as primarily the work of Lejeune. Gautier claimed in 2009 that she was put to one side by Turpin and by Lejeune who claimed responsibility for the discovery, even though it relied on the work that she had initiated and directed technically. Aware of having been manipulated Gautier decided to abandon trisomy 21 and to return to caring for children affected by cardiopathy.

In January 1959, by studying new cases and to forestall similar research by the English, the Trousseau laboratory announced the results of the analysis of the slides in the Proceedings of the Academy of Sciences through a paper published with Lejeune as first author, Gautier second (her surname misspelled) and Turpin last author.

Using this protocol, Gautier found that the cells of normal children have 46 chromosomes. In May 1958, she observed an additional chromosome in the cells of a trisomic boy, the first evidence of chromosomal abnormalities in individuals with Down syndrome.

At the time, the laboratories at the Armand-Trousseau hospital did not have a microscope capable of capturing images of the slides. Gautier entrusted her slides to Jérôme Lejeune, a fellow researcher at CNRS, who offered to take pictures in another laboratory better equipped for this task. In August 1958 the photographs identified the supernumerary chromosome in Down syndrome patients. However Lejeune did not return the slides, but instead reported the discovery as his own.

The Jérôme Lejeune Foundation asserts that a letter from Turpin to Lejeune in October 1958 shows that Lejeune, and not Gautier, identified the 47th chromosome. The Foundation maintains that there is no evidence that Gautier made the key discovery.

In 1956, biologists from Lund University in Sweden announced that humans have exactly 46 chromosomes. Turpin had many years earlier proposed the idea of culturing cells to count the number of chromosomes in trisomy. Gautier had recently joined the pediatrics group he headed at the Armand-Trousseau Hospital, and she offered to attempt this, since she had been trained in both cell culture and tissue staining techniques in the United States. Turpin agreed to provide her with tissue samples from patients with Down syndrome. With very limited resources Gautier set up the first in vitro cell culture laboratory in France.

In 1955 she submitted and defended her thesis in pediatric cardiology under the direction of Robert Debré. Her thesis focused on the study of clinical and anatomical pathology of fatal forms of rheumatic fever (rheumatic endocarditis) due to streptococcus infection.

In September 1955, Gautier left for Boston. She was accompanied by Jean Aicardi and Jacques Couvreur, both Fulbright scholars, and the three became the first interns of the Hôpitaux de Paris to be awarded scholarships for the US. At Harvard, one of the tasks of her internship was to be trained as a laboratory technician working on cell culture. Besides the two objectives that had been set initially, Gautier was also working half-time as a technician in a laboratory for cell culture to obtain in-vitro cultures of fibroblast starting from aorta fragments.

Marthe Gautier discovered a vocation for pediatrics at an early age. In 1942 she joined her sister Paulette who was about to complete her medical studies in Paris intending to become a pediatrician. She passed the entrance exam of the "Internat des hôpitaux de Paris" and spent the next four years as an intern gaining clinical experience in pediatrics.

Marthe Gautier (French pronunciation: ​[maʁt ɡotje]; 10 September 1925 – 30 April 2022) was a French medical doctor and researcher, best known for her role in discovering the link of diseases to chromosome abnormalities.