Controversy over the discovery of Trisomy 21

On January 26, 1959, and on March 16, 1959, two communications were sent to the Academy of Sciences. These communications established the presence of 47 chromosomes in children diagnosed with Down syndrome, and were published under 3 signatures in the following order: Lejeune, Gautier, and Turpin. This order of signatures signified that the first name is the discoverer; the last name is the leader of the team, and all names that fall in between are contributors to the discovery.

For 50 years, nothing happened. However, since 2009, the memory of Jerome Lejeune has been attacked by Marthe Gautier. Born in 1925, and now the sole surviving member of the research team, Marthe Gautier now claims that she and she alone discovered trisomy 21. By these same claims, Gautier accuses Jerome Lejeune of being a usurper who despoiled Marthe Gautier.

Some of these claims were recently taken up by the ethics committee of INSERM (the French public institute for health and medical research), in an opinion released on September 14, 2014. The committee states that Jerome Lejeune’s share in the discovery “is unlikely to have been the predominant” and restricts his contribution to merely helping to develop and promote the discovery.

Faced with these accusations and the degradation of the role of Jerome Lejeune, the Jerome Lejeune Foundation decided to react. In 2009, the Foundation remained silent, considering the limited distribution of Marthe Gautier’s personal statements. However, when the Foundation learned that Marthe Gautier was planning to intervene on the discovery of trisomy 21 before the Assize of of Human and Medical Genetics in Bordeaux, the Foundation decided to record the remarks by the bailiff, after being granted authorization by the courts, in order to defend the reputation of Jerome Lejeune should he be vilified. As it turned out, the Foundation’s intuition was right: the opinion of the INSERM ethics committee is rewriting the history of the discovery following in Mrs. Gautier’s footsteps. The Foundation feels therefore compelled to share and communicate more elements and documentation which shed light on a controversy that really has very little to do with science.

It was Jerome Lejeune, not Marthe Gautier, who Prof. Raymond Turpin, the department head at Paris hospital Trousseau, asked to be the first to sign the original publication in January 1959, designating that Lejeune be the one who would be remembered as the discoverer of the cause of Down Syndrome. It would have been up to Prof. Turpin to arrange otherwise, but correspondence from that time shows that it was his intention even as far back as October 1958, six months after the first time Lejeune counted 47 chromosomes in May 1958, while Mme. Gautier had never counted more than 46 chromosomes in infants diagnosed with Down syndrome.

Jerome Lejeune, on his part, never once ceased to acknowledge and praise Marthe Gautier’s contribution to the discovery. In the exchange of letters between the two colleagues, there is not a trace of controversy.

What remains is a retelling of a repainted history according to the contemporary ideologies aiming to create and popularize a pseudo-controversy. Indeed, two major criticisms from Marthe Guatier, completely anachronistic, are part of the underlying reasoning used by INSERM in their referral and opinion.

– The first claim is that Marthe Gautier, as a young woman scientist during that time, was a victim of “Mandarin style” machismo by Jerome Lejeune. This argument is ridiculous because Lejeune was the junior of Gautier and he had no authority over her.

– The second claim is that the commitment of Jerome Lejeune against the abortion of Down syndrome children would have cost the team the Nobel Peace Prize. Again, the argument is anachronistic since this commitment came a dozen years after the discovery. This claim reflects more the frustration of the author and a certain race for fame and honor, which was never a marker for Jerome Lejeune who, for 35 years, was solely focused on the fate of the Down syndrome patients entrusted to him.

Download the folder of the controversy