Human Genetics

, Volume 126, Issue 2, pp 317–324 | Cite as

Fiftieth anniversary of trisomy 21: returning to a discovery

  • Marthe Gautier
  • Peter S. Harper
Historical and Personal Perspectives

“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-author1 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 46. This did not affect many people, apart from a few geneticists, and for a long time 48 was still the figure taught in schools. This stage,...


Nobel Prize Turner Syndrome Acute Rheumatic Fever Congenital Toxoplasmosis Fiftieth Anniversary 
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Copyright information

© Springer-Verlag 2009

Authors and Affiliations

  1. 1.ParisFrance
  2. 2.Institute of Medical Genetics, School of MedicineCardiff UniversityCardiffUK

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