Down's syndrome discovery dispute resurfaces in France

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An extra copy of chromosome 21 causes Down's syndrome but there is a dispute over who discovered it.

A disagreement over the discovery of the cause of Downs syndrome has resurfaced in France more than 50 years after the findings were published.

The dispute erupted again at the French Federation of Human Genetics' (FFGH) seventh biennial congress on human and medical genetics in Bordeaux at the end of last month.

Paediatric cardiologist Marthe Gautier, who was involved in the experiments that led to the identification of the extra copy of chromosome 21 the cause of the syndrome was due to relate her role in the discovery when two bailiffs arrived with a court authorization to record the session. The FFGH then decided at the last minute to cancel Gautier's presentation.

The bailiffs were representing the Paris-based Jrme Lejeune Foundation, which finances a large proportion of current Down's syndrome research in France. The foundation does not deny Gautiers contribution to the work leading to the discovery, but it credits the late Lejeune for the discovery itself.

Lejeune, a geneticist, was first author of the key paper reporting1 the finding, published by the French Academy of Sciences in January 1959. Gautier was listed as second author, and Raymond Turpin, a paediatric geneticist and Gautiers and Lejeunes boss at the Trousseau Hospital in Paris, was listed as third author.

The FFGH says that it wanted to honour Gautiers role in the discovery by giving her the floor and awarding her the federation's grand prize. Without questioning Jrme Lejeunes very important contribution to French genetics through the article on trisomy 21 and other work, we simply wanted to make a gesture in recognition of the determinant character of Marthe Gautiers contribution, the federation said in a statement.

But when the bailiffs walked in, we realized the recording might be used in a court case, FFGH treasurer and former president Dominique Bonneau told Nature. Not only do we not have the funds to fight a libel suit, but we felt it was inappropriate to hold the presentation under such strong legal pressure. Gautier received her prize discreetly and nine eminent geneticists signed a statement endorsing the decision to cancel the presentation.

Jean-Marie Le Mn, president of the Jrme Lejeune Foundation, says that the bailiffs were sent because the foundation wanted an official recording of the talk so that there could be no dispute over what was said. We needed to know what was said in case Jrme Lejeunes memory was smeared, he says.

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Down's syndrome discovery dispute resurfaces in France