Field of Science

Who really discovered trisomy 21? (righting an old wrong)

A few days ago a French student in my Useful Genetics Coursera course posted a link to an article in Le Monde (sorry, it's both in French and behind a paywall, but this link might get you a translation).  It reported that a Jan. 31 award ceremony for the discovery of the cause of Down syndrome, part of the 7th Human and Medical Genetics Congress  in Bordeaux, had been blocked by a Down syndrome support organization (Fondation Jerome-Lejeune).  The back story is very depressing, an egregious example of a woman scientist being denied credit for her discovery.

Photo source: Le Monde
The woman is Dr. Marthe Gautier, now 88 years old.  In 1956 she was a young physician, returning to Paris from a year's study of pediatric cardiology at Harvard.  She was given a clinical/teaching position at a local hospital, with no funds for research.  The Head of the Pediatric Unit, Raymond Turpin, was interested in mongolism (as Down syndrome was then called); years earlier he had proposed that it might be caused by a chromosome abnormality.  Human cytogenetics was not well understood, but a big breakthrough came this same year, when the true chromosome number was finally established as 46 (not 48).  When Turpin complained that nobody was investigating his hypothesis, Gautier proposed that she take this problem on, since her Harvard training had introduced her to both cell culture and histology.  Turpin agreed to provide a tissue sample from a patient.

For this work she was given a disused laboratory with a fridge, a centrifuge, and a poor quality microscope, but no funding.  And of course she still had her other responsibilities.  But she was keen and resourceful, so she took out a personal loan to buy glassware, kept a live cockerel as a source of serum, and used her own blood when she needed human serum.

By the end of 1957 she had everything working with normal human cells, and could clearly distinguish the 46 chromosomes.  So she asked Prof. Turpin for the patient sample.  After 6 months wait it arrived, and she quickly was able to prepare slides showing that it had not 46 but 47 chromosomes, with three copies of a small chromosome.  But her microscope was very poor, and she could not identify the chromosome or take the photographs of her slides that a publication would need.

All this time Prof. Turpin had never visited her lab, but she'd had frequent visits from a protege of his, Jerome Lejeune.  When she showed Lejeune her discovery, he offered to take the slides to another laboratory where they could be photographed.  She never saw the slides again, but the photographs appeared in Montreal two months later (August 1958), where Lejeune announced to the International Conference of Human Genetics in Montreal that he had discovered the cause of Down syndrome!  Lejeune and Turpin quickly wrote up 'their' discovery, with Gautier as middle author, but Gautier only learned about this publication the day before it appeared in print.

These were tough times for a woman scientist in France, and Gautier decided not to fight for the credit for her discovery, instead returning to her clinical and teaching work on congenital heart diseases.

Lejeune became not just a renowned researcher but the darling of the French Catholic right-to-life movement.  You can read long flattering Wikipedia biographies in both French and English. He was showered with awards and given a prestigious Chair of Human Genetics at the Paris School of Medicine, bypassing the usual competition.

When prenatal diagnosis became available Lejeune campaigned against it on religious grounds. He became a friend of Pope John Paul II and was appointed President of the Pontifical Academy for Life (Wikipedia), the Catholic think-tank for medical ethics.  He died in 1994.  The Fondation Jerome-Lejeune was established in his honour; there's an American branch too.  This foundation provides funds for research into Down syndrome and support for families and patients, but only in the context of very strong opposition to abortion.  They're also campaigning to have Lejeune beatified by the Vatican.

But Gautier's role in the discovery of trisomy 21 was not totally forgotten.  It has been very well described in a 2009 article in the journal Human Genetics by Gautier and Peter Harper, the author of a major history of cytogenetics (paywalled but try this link to a pdf), and in a 2013 interview.  There's also a French Wikipedia page about her.  But few people in the field know about this injustice, and cytogenetics textbooks and courses still credit Lejeune for the discovery.  Gautier has no English Wikipedia page, and the Wikipedia pages on Lejeune describe her contribution as follows:
"Using a new tissue culture technique brought back from the United States by his colleague Marthe Gautier, Lejeune began working with her to count the number of chromosomes in children with Down syndrome. The laboratory notebook begun by Dr. Lejeune on July 10, 1957 indicates that on May 22, 1958, he succeeded in showing, for the first time, the presence of 47 chromosomes in a child with Down syndrome."
Not surprisingly, the Fondation Jerome-Lejeune strongly opposes any correction of the scientific record, since this would reveal the intellectual theft at the base of their hero's reputation.  That's why they sent in the bailiffs to record her award ceremony.

I'm of course outraged to learn about this situation, and this post is one attempt to set the record straight.  My other venue is Wikipedia, which I've been learning to edit.  So far I've added sentences crediting Gautier with the discovery to the Wikipedia entries on Down Syndrome and on Jerome Lejeune.  Someone else had added a mention of the dispute to his French entry.  I'm going to expand these each into a paragraph.  I've also created an empty page for Marthe Gautier and requested that the Wikipedia translation people fill it from her French entry.

So please spread the word.  Marthe Gautier discovered that trisomy 21 is the cause of Down syndrome, and Jerome Lejeune's saintly reputation is based on scientific fraud.

Later:  I've corrected an error: Gautier could not identify the trisomic chromosome with her poor microscope.  And here are links to news articles about this controversy, in Nature and Science.


  1. thos post could be put to her page, yes?

  2. This blog post is a good step toward righting a wrong. Good luck with your efforts.

  3. Interesting argument. I have two children with Down Syndrome and they are the love of my life! San Diego Down Syndrome. Org

    San Diego Down Syndrome

  5. I'm so glad you are on this! (Though, you might want to delete "optimia dev"'s ad.). Corroboration here and in the comments, too.

  6. A very moving story - good luck with your efforts to right a wrong.

  7. Hi Dr. Redfield,

    Interesting post, but please fix your CSS or have your admins do it. The color of a hyperlink that has been visited is the same color as the surrounding text, thus rendering those links mostly invisible.

    Please see this screenshot:

    It makes it very difficult for me and probably others to find those links in your text again.

    That's on Chrome.


    1. Sorry. I agree that the grey colour of clicked links is bad, but the manager of Field of Science set it up and I don't know how to change it.

  8. I know it seems terribly unfair, as Gautier did do all the work and Lejeune simply swooped in and immediately recognized the solution to the problem, but the fact is, she didn't discover the cause of Down's syndrome. He did. As much as you may want to talk about what would have happened if her microscope had been better, history simply doesn't deal in might-have-beens. Lejeune deserves the credit, even if his behavior was sleazy. Meanwhile, nobody seems to be denying the work Gautier actually did; not even in the original paper. Seems to me more a case of women propping up women, without concern for whether it's warranted.

  9. Oh, my daily dose of bile and rage. Fuck Lejeune, not just for his campaigning for lack of access to testing for parents, but also for one of the worst things a scientist can do.

  10. A comment sent by email:

    "So please spread the word. Marthe Gautier discovered that trisomy 21 is the cause of Down syndrome, and Jerome Lejeune's saintly reputation is based on scientific fraud.

    Later: I've corrected an error: Gautier could not identify the trisomic chromosome with her poor microscope. And here are links to news articles about this controversy, in Nature and Science."

    Yes, I thought so! When I first saw that you had posted a strongly opinionated piece on this topic I thought that it was a mistake for you to involve yourself with something on which you could not be an expert and with an area of science far from your main interests. The correction shows that my initial reaction was not wrong.

    Another approach to the issue is this: Science progresses by means of publications. Anecdotes and personal claims do not count (except in the most extraordinary circumstances). Therefore a key question is whether Gautier published, before Lejeune, anything to show that she had detected an additional chromosome, with or without some indication that it was among the undifferentiated small ones. If she had done so, your post could perhaps be justified. But did she? I have never seen anything cited.

    Blogging is a dangerous pastime (dangerous to one's reputation) and in this case I infer that your possible interest in gender equality has led you to overlook the niceties of how credit is allocated. Not that I would generally defend French scientists. Of my several interactions with individuals and institutions about half have revealed serious lapses in scientific ethics. Nor do I know whether Gautier or Lejeune deserve what they received. My concern is that you appear to have dived in to the detriment of a reputation for balance and good sense.

    Best wishes,

    Bernie Cohen

    1. Yes, I completely echo Bernie's statement. It seems you are slandering Lejeune in the public forum since you are sore that Gautier does not have a Wikipedia page. Go make one, then, and stop vilifying people and ruining their good name and reputation without evidentiary support. Gautier received the acknowledgement in the published papers for her significant contributions.

      You also have extreme bias concerning Lejeune's Right to Life volunteerism and you try to use this to discredit Lejeune, further.

      Lejeune knew that the discovery of this genetic marker would open the door to selective abortions on persons with Downs Syndrome. He is lauded (and should be) for his efforts to prevent these selective abortions on these beautiful children.

  11. Seraya, thank you very much for providing this additional information. Sorry I didn't see you comment until now (I think I should turn off comment moderation).

  12. Dear Rosie,
    Thank you for your comment. I met Dr Gautier on last week at her home in Paris and I gave her the link to you page.
    I will publish soon an update on
    With best wishes,


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