SMRTR Science & EngineeringFeb 6, 2025Scientific American

Who Discovered the Cause of Down Syndrome?

SMRTR summary

Dr. Marthe Gautier played a key role in discovering the genetic cause of Down syndrome in the 1950s, identifying an extra chromosome in affected individuals. However, her male colleague Jérôme Lejeune rushed to publish the findings first, listing himself as lead author and misspelling Gautier's name, denying her proper credit for decades.

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