Marthe Gautier, 1925-2022
Celebrating the scientist who counted and saw that there was an extra chromosome in the cells of individuals with Down syndrome
Marthe Gautier, a French physician who discovered the genetic basis for Down syndrome in 1958, passed away 30 April 2022. For nearly 50 years after she counted 47 chromosomes in the cells of individuals with trisomy of the 21st chromosome, Dr. Gautier’s work was not recognized, with credit instead going to the man who photographed her microscope slides and published a paper reporting the images with his name as first author. Dr. Gautier has said that that man, Jérôme Lejeune, was determining that the extra chromosome was the 21st.
As the 50th anniversary of the discovery drew near in 2009, Dr. Gautier (with Peter Harper) published her recollections of the times and work in Human Genetics (2009). They began the article in this way:
Fifty years ago, I was the co-author of the first paper that showed the presence of an additional chromosome (Lejeune et al. 1959) in the syndrome identified by Langdon Down in 1866 and commonly known as “mongolism” in France at the time. This, the first autosomal chromosome aberration recognised in the cells of the human species, was named trisomy 21. I thought it would be of historical interest to bring my own personal testimony as an actor in that discovery.
Galliot and colleagues (2025), Lynn (2025), and Pain (2014) recount the story of the discovery and controversy. There is also coverage in the Wikipedia biography of Dr. Gautier.
Within a few years of her discovery of trisomy of the 21st chromosome, Dr. Gautier stopped working on culturing cells in the search for genetic bases of inherited syndromes. She returned to her previous interest in pediatric cardiology. She was later award the French Legion of Honor and the Ordre National du Mérite.
Marthe Gautier was born on 10 September 1925 in Montenils. in the Île-de-France region of France. She lived most of her life in and around Paris. She died 30 April 2022 in Meaux. Denise Grady (2025) published an extensive obituary in the New York Times.
References
Galliot, L., McNulty, S, & The Lost Women of Science Initiative. (2025). Who discovered the cause of Down syndrome? It took more than 50 years for Marthe Gautier to set the record straight about her discovery of the genetic cause of Down syndrome. Scientific American, 6 February 2025. [Podcast}
Gautier, M., & Harper, P. S. (2009). Fiftieth anniversary of trisomy 21: Returning to a discovery. Human Genetics, 126, 317–324. https://doi.org/10.1007/s00439-009-0690-1
Grady, D. )2025). Marthe Gautier, 96, dies; had key role in Down syndrome breakthrough: She had to fight for recognition after a male colleague took credit for her work in identifying an extra chromosome as the cause of that genetic condition. New York Times, https://www.nytimes.com/2025/10/30/health/marthe-gautier-dead.html
Lejeune, J., Gautier, M., Turpin, R. (1959). Etude des chromosomes somatiques de neuf enfants mongoliens. [Study of somatic chromosomes from 9 mongoloid children]. Comptes Rendus Hebdomadaires des Seances de l’Academie des Sciences, 248(11), 1721–1722. https://pubmed.ncbi.nlm.nih.gov/13639368/
Lynn, B. (2025). Marthe Gautier: The unsung heroine of Down syndrome research. Vox Medittantis, https://voxmeditantis.com/2025/06/25/marthe-gautier-the-unsung-heroine-of-down-syndrome-research/
Pain, E. (2014). After more than 50 years, a dispute over Down syndrome discovery. Science, 343, 720-721. https://www.science.org/doi/pdf/10.1126/science.343.6172.720