Marthe Gautier, a French physician who was involved in the discovery of the extra chromosome that causes Down syndrome, died on Saturday, April 30. She was 96. This is an opportunity for us to look back and reflect on this discovery and the key role Gautier played in it. Like so many other women of her generation, she was a victim of what has come to be known as the Matilda Effect (see box).
Trisomy 21
Sixty-three years ago, the French Academy of Sciences received an article, "Human Chromosomes in Tissue Cultures" (1959), which reported the presence of an extra chromosome in patients with the syndrome that had been described by Langdon Down almost a century earlier. This was the first autosomal chromosome aberration recognized in the cells of humans; in 1960, it would be given the name "trisomy 21
