Marthe Gautier at an exhibition of the Art and Exhibition Hall of the Federal Republic of Germany

In collaboration with the German research project TOUCHDOWN 21, the Art and Exhibition Hall of the Federal Republic of Germany (Bundeskunsthalle) will organize an exhibition about Down syndrome.

This exhibition, entitled “TOUCHDOWN – an exhibition with and about people with Down Syndrome” (in German: Touchdown Eine Ausstellung mit und über Menschen mit Down-Syndrom), will be held from 29 October 2016 to 12 March 2017.

Down’s syndrome (also known as trisomy 21) is a genetic disorder caused by the presence of all, or part of an extra copy of chromosome 21 in a baby’s cells. It causes some learning disabilities and characteristic physical features.

Down’s syndrome was first described, in 1862, by an English physician John Langdon Down. He used the term “mongoloid” to describe this health condition because he considered that children with Down’s syndrome shared similar physical features to people from the Blumenbach’s Mongolian. Later, the term “mongoloid” became less common and it was considered pejorative and inaccurate


Fig 1. Marthe Gautier in the lab
[Courtesy of Marthe Gautier]

Discovery of the trisomy 21 chromosomal abnormality

After spending one year at Harvard University in order to acquire knowledge in pediatric cardiology, Marthe Gautier returned to Paris and accepted a position at the Trousseau Hospital, in Raymond Turpin’s team.
Prof Turpin favored the hypothesis of a chromosomal disorder of Down syndrome.

Then, at the 1956 start of the University Year, the Chief, returning from the International Human Genetics Congress in Copenhagen, informed us that the number of chromosomes in the human species was not 48, but “46”. He then voiced his regret that there was nowhere in Paris to produce cell cultures to count the number of chromosomes in Mongolism. I was greatly surprised at that remark and, armed with my American experience, offered to “do what I could, if I was given some premises”. I knew that I had to act quickly, without getting it wrong, and succeed at the first attempt, because the international teams were already in competition, or about to be, with the rivalry found in the field of research just as elsewhere. I entered the Sorbonne to study for a Cellular Biology Certificate.

Wrote Marthe Gautier in an article published initially in Médecine/Sciences, which was later translated from the French by Cardiff University Centre for Lifelong Learning and Prof Peter S. Harper.

Marthe Gautier founded the first laboratory in France for cell culture and was able to discover in 1958 that children with Down syndrome have 47 chromosomes, with an extra copy of chromosomes 21.

At last, some tissue from Mongol children was obtained. In terms of mitosis, the cells of the Mongol children had an unmistakable difference: all had 47 chromosomes, while the controls had 46. My gamble, which was that I would succeed alone with my laboratory workers at my technique and above all discover an anomaly, had paid off. It is a French discovery, something that was not apparent at the start.” [1]

Jérôme Lejeune, a member of Prof Turpin’s team, received from Marthe Gautier the slides to take the pictures that can confirm this discovery. She explained :

The additional chromosome was small, and the laboratory did not have a photomicroscope that would confirm its presence and establish the karyotype. I entrusted the slides to J.L., who had the photos taken but did not show them to me; they were, he said, with the Chief and therefore under lock and key.” [1]

Later, Jérôme Lejeune, not only he started presenting himself as the discoverer of trisomy 21, but Prof Turpin gave him the the first author position on the main publication describing the discovery of trisomy 21, which was published in the CRAS (Franch Academy of Sciences reports). The name of Marthe Gautier only appears second !

The disagreement issue over the discovery of Trisomy 21 erupted after a disagreement in 2014 at the French Federation of Human Genetics (FFGH). Marthe Gautier (National Order of the French Legion of Honour) was invited on 31th of January 2014 to the 7th Human and Medical Genetics Congress in Bordeaux to receive an award for her contribution to the discovery of Trisomy 21.



Fig 2. The award of the French Federation of Human
Genetics to Dr Gautier for her contribution to the discovery
of Trisomy 21 [Courtesy of Marthe Gautier].

Lejeune Foundation (a Down syndrome support organization based in Paris), that attributes this discovery to Jérôme Lejeune (who passed away in 1994), has sent a bailiff (two according to Science) to FFGH in order to record the award ceremony and Gautier’s talk. The organizers decided to call off at the last minute this ceremony.

Seraya Maouche, founder of Ethics and Integrity Platform, published in August, 21st, 2015, an article describing this issue.  Nature and Science have also discussed this Down’s syndrome discovery dispute.

In 2014, The Ethics Committee of the French Institute of Health and Medical Research (INSERM) has published a report about the issue of Trisomy 21.

After receiving a referral from a group of researchers, the INSERM’s Ethics Committee headed by Prof Hervé Chneiweiss issued, on September 14th,  2014, an Opinion explaining the role of Marthe Gautier (90-year old) in the discovery of Trisomy 21.

The discovery of trisomy could not be made without the essential contributions of Raymond Turpin and Marthe Gautier. It is regrettable that their names were not consistently associated with this discovery in both communication and the attribution of various honors.” – The INSERM’s Ethics Committee.

Lejeune Foundation responded to this report, but on the 3rd September 2015, Seraya Maouche, who is writing a book about Marthe Gautier, published a detailed analysis of the issue, documents, reports, and the replies of Lejeune Foundation. She provided evidence of errors and inaccurate analysis in Lejeune Foundation’s response to the INSERM’s Ethics Committee.

Contacted by Katharina Labermeier from the German research project TOUCHDOWN 21 on August 18th, 2016, Seraya Maouche has organized with TOUCHDOWN 21 team, a video-conference with Dr Marthe Gautier on August 23rd.

The TOUCHDOWN 21 team had an excellent idea to involve children with Down’s syndrome in this video-conference meeting, they were able to directly ask many questions to Dr Gautier.

The TOUCHDOWN 21 is “a research project made by people with Down Syndrome, about people with Down Syndrome“. It is based in Bonn and headed by Dr Katja de Bragança.


Source : The Bundeskunsthalle

The TOUCHDOWN exhibition at the Bundeskunsthalle (The Art and Exhibition Hall of the Federal Republic of Germany) in Bonn, from 29 October 2016 to 12 March 2017 will also focus on the work of Dr Marthe Gautier, one of the women scientists who are “denied scientific glory“.


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