, Volume 126, Issue 2, pp 317-324
Date: 30 Jun 2009

Fiftieth anniversary of trisomy 21: returning to a discovery

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“In reality, discoveries are due to people at the edge of the formalised groups of researchers”

Pierre Laszlo

Fifty years ago, I was the co-author

By a slip of the pen that I dare not interpret, my name was wrongly entered as “Marie Gauthier”. The error was corrected in subsequent publications.

of the first paper that showed the presence of an additional chromosome (Lejeune et al. 1959) in the syndrome identified by Langdon Down in 1866 and commonly known as “mongolism” in France at the time. This, the first autosomal chromosome aberration recognised in the cells of the human species, was named trisomy 21. I thought it would be of historical interest to bring my own personal testimony as an actor in that discovery.

A historical background

Going back to 1958 involves rediscovering the context and the firmly held beliefs of that period. Although it had been accepted for decades that human beings possessed 48 chromosomes, Tjio and Levan (1956) demonstrated in 1956 that there were in fact only ...

This article by Marthe Gautier was translated from the French by Cardiff University Centre for Lifelong Learning and Peter S. Harper. The commentary is by Peter Harper. Originally published in Médecine Sciences [Gautier M (2009) Cinquantenaire de la trisomie 21. Retour sur une découverte. Med Sci (Paris) 25(3): 311–315], this article now reappears in English by kind permission of the publisher, Éditions EDK.