Jérôme Lejeune
French pediatrician and geneticist (1926–1994)
Jérôme Jean Louis Marie Lejeune (French pronunciation: [ʒeʁom ʒɑ̃ lwi maʁi ləʒœn]; 13 June 1926 – 3 April 1994) was a French pediatrician and geneticist. He is best known for his work on the links between chromosome abnormalities like Down syndrome (trisomy-21) and cri du chat syndrome. He is also known for his subsequent strong opposition to the use of amniocentesis prenatal testing for eugenic purposes through selective and elective abortion. He was declared Venerable by Pope Francis on 21 January 2021.
Career
Trisomy 21
In 1958, while working in Raymond Turpin’s laboratory with Marthe Gautier, Jérôme Lejeune reported that he had discovered that Down syndrome was caused by an extra copy of chromosome 21. According to Lejeune's laboratory notebooks, he made the observation demonstrating the link on 22 May 1958. The discovery was published by the French Academy of Sciences with Lejeune as first author, Gautier as second author, and Turpin as senior author. In 2009, co-author Gautier claimed that the discovery was based on fibroblast tissue samples that she had prepared and on which she noticed the discrepancy in chromosome count. This discovery was the first time that a defect in intellectual development was shown to be linked to chromosomal abnormalities.
Origins of the discovery
In the early 1950s, Lejeune joined the department headed by Turpin, who suggested that Lejeune focus his research on the causes of Down syndrome.
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This entry incorporates text from “Jérôme Lejeune” on English Wikipedia. Contributors are listed in the page history. Text is available under the Creative Commons Attribution-ShareAlike 4.0 License. Selected authority identifiers and statements are retrieved from Wikidata under CC0; their references and qualifiers remain part of the verification path.