Jérôme Lejeune
| Jérôme Lejeune | |
|---|---|
Jérôme Lejeune
|
|
| Born |
13 June 1926 Montrouge, Hauts-de-Seine, France |
| Died | 3 April 1994 (aged 67) Paris, France |
| Nationality | French |
| Fields |
Pediatrics Genetics |
| Institutions | French National Centre for Scientific Research |
| Alma mater |
Collège Stanislas de Paris Paris School of Medicine |
| Notable awards |
Kennedy Prize (1962) William Allan Award (1969) "Prix Griffuel 1992". Archived from the original on January 17, 2008. |
| Spouse | Birthe Bringsted |
Jérôme Jean Louis Marie Lejeune (13 June 1926 – 3 April 1994) was a French pediatrician and geneticist, best known for discovering the link of diseases to chromosome abnormalities and for his subsequent opposition to prenatal diagnosis and abortion.
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 in French Academy of Sciences with Lejeune as first author, Gautier as second author and Turpin as senior author. In 2009 co-author Marthe Gautier claimed that the discovery was based on fibroblast tissue samples that she had prepared and noticed the discrepancy in chromosome count on. This discovery was the first time that a defect in intellectual development was shown to be linked to chromosomal abnormalities.
In the early 1950s, Lejeune joined the department headed by Dr. Turpin, who suggested that Lejeune focus his research on the causes of Down syndrome. As early as 1953, the two men showed a connection between an individual’s characteristics and his or her dermatoglyphs—a term referring to fingerprints and lines on the hand. The structure of these lines, which remain the same throughout the individual's life, is determined during the earliest stages of embryo development. As Lejeune and Turpin studied the hands of children with Down syndrome, they deduced that their dermatoglyphic anomalies appeared during embryo formation. After making many more observations, Dr. Lejeune concluded that the anomalies resulted from a chromosomal accident. Using a new tissue culture technique brought back from the United States by his colleague Marthe Gautier, Lejeune began working with her to count the number of chromosomes in children with Down syndrome.
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