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Fifty Years On, Controversy Surrounds Down Syndrome Discovery


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It’s been over 50 years since scientists determined that an extra copy of the 21st chromosome is responsible for Down syndrome. But today a battle continues over who deserves credit for the discovery.

For decades, Jérôme Lejeune was heralded as the one who spotted the chromosomal difference in those with Down syndrome. But in recent years, Science Magazine reports that another scientist — Marthe Gautier, 88 — has come forward to say that she, not Lejeune, was really the one to first notice an extra chromosome.

The claim from Gautier has ignited rebuke from Lejeune’s supporters and the conflict came to a head earlier this year. Gautier was scheduled to give a talk to the French Federation of Human Genetics. The speech was abruptly canceled, the magazine reports, after officials from Lejeune’s foundation sent two bailiffs with a court order to record Gautier citing concerns that she might “tarnish” Lejeune’s memory.

For her part, Gautier insists that she was the one who first noticed an extra chromosome in those with Down syndrome, but acknowledges that Lejeune determined that the additional chromosome was an extra copy of the 21st that everyone has.

Simone Gilgenkrantz, a scientist and friend of Gautier, told Science Magazine that Gautier’s experience is an example of sexism and that her story needs to be told “in the name of women.”

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Comments (3 Responses)

  1. Mark Bradford says:

    As the press release from the Jerome Lejeune Foundation in Paris states, they have a handwritten note from Raymond Turpin to Jerome Lejeune, that is dated after the time that Marthe Gautier claims to have observed the extra chromosome, in which Turpin writes that Gautier was still counting 46 and not 47 chromosomes. History cannot be revised based upon claims for which there is no proof.

  2. Rosella A. Alm says:

    Hopefully history will credit both scientists with this discovery without regard to gender.

  3. Disorderless Asperger says:

    Two groups arguing over a discovery … and all the humanity is lost. Those with Downs Syndrome were (and are) people before they were test subjects and medical specimens, but that fact seems to have been lost in the race to get one’s name up in lights.

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