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Using a microscope, it was possible to prove that children with Down syndrome have an extra chromosome (symbol image)
Photo by Ng Han Guan/ AP
The French pediatrician and scientist Marthe Gautier, who played a key role in the discovery of trisomy 21 as the cause of Down syndrome, is dead. Gautier died on Saturday at the age of 96, according to the French research institute Inserm.
For many years, only their male colleagues Raymond Turpin and Jérôme Lejeune were credited with discovering trisomy 21 - Gautier's important contribution only became known later.
Gautier joined Turpin's research group in Paris in the 1950s.
Turpin came up with the idea of counting the chromosomes in cells of affected children under the microscope.
Gautier got to know the technique during her studies in the USA and was able to prove that children with Down syndrome have an extra chromosome.
kim/AFP