Marthe Gautier completed her medical training in pediatric cardiology at the Hôpitaux de Paris in 1955. After, while on scholarship at Harvard University, she worked part-time as a cell culture technician. Returning to Paris, she joined Raymond Turpin’s team, who was researching the chromosomal origin of trisomy. Turpin had proposed the idea of culturing cells to count the number of chromosomes in trisomy and Gautier offered to attempt this, since she had been trained in both cell culture and tissue staining. She set up the first in vitro cell culture laboratory in France. The cells of normal children have 46 chromosomes. In May 1958, Gautier observed an additional chromosome in the cells of a trisomic boy, the first evidence of chromosomal abnormalities in individuals with Down syndrome. As the laboratory 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. Lejeune did not return the slides, but instead reported the discovery as his own. Enraged by the disrespect, Gautier decided to abandon trisomy 21 and to return to caring for children affected by cardiopathy. It wasn’t until 2014 that the ethics committee of the Inserm issuing a statement that the discovery of trisomy would have been impossible without the contributions of Raymond Turpin and Marthe Gautier. Marthe Gautier was appointed to the rank of Officer of the French Legion of Honor in September 2014.
