Laboratory cell culture 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 order to count the chromosomes, Gautier worked on
fibroblasts derived from
connective tissue, which were easier to obtain under
local anesthesia. Although the principle of cell culture is simple, there were many practical obstacles to getting it to work under the primitive conditions available to Gautier, who was forced to use a personal loan to purchase laboratory glassware and, at times, her own blood as a source of human serum. She eventually confirmed that the protocol worked, using connective tissue from a neighbouring surgeon, taken during planned interventions in children. She used the "hypotonic shock" method followed by drying the slide after attachment in order to disperse the chromosomes of dividing cells and make them easier to count. Using this protocol, Gautier found that the cells of children who do not have a chromosomal abnormality 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.
Announcement of results 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. However Lejeune did not return the slides, but instead reported the discovery as his own. In January 1959, by studying new cases The Turpin team identified the first translocation and the first chromosomal deletion, resulting in publications Gautier co-signed.
Attribution of the discovery 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. 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. 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 for scientific publications and listing authors. The note states that "history of discovery is not identical to the history of science, and the process of validating knowledge remains very different... 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". == Medical career ==