Jérôme Lejeune

Jérôme Lejeune (1926–1994) was a French pediatrician and geneticist whose team identified an extra chromosome 21 as the cause of Down syndrome. He later became a prominent opponent of abortion and prenatal testing.

Down syndrome: A genetic condition usually caused by an extra copy of chromosome 21, affecting development and health. Lejeune’s best-known scientific work identified its chromosomal cause.
Chromosome: A structure of DNA and associated proteins that carries genetic information in cells. Lejeune’s finding was that affected cells contained an additional chromosome.
Marthe Gautier: A French physician and cytogeneticist who developed laboratory methods used in early chromosome research on Down syndrome. Her cell-culture work was central to the laboratory discovery later associated with Lejeune.
Institut Jérôme Lejeune: A French medical and research institute specializing in care and research for people with intellectual disabilities of genetic origin. The institute continues clinical and research work in Lejeune’s name.
Eugenics: A set of beliefs and practices aimed at improving human populations through control of reproduction. Lejeune opposed the use of prenatal diagnosis to select against fetuses with Down syndrome, a practice critics associate with eugenic logic.
Trisomy 21: A chromosomal condition in which cells contain three copies of chromosome 21 instead of two. This is the specific chromosomal finding linked to Lejeune’s 1959 discovery.
Karyotype: An organized display of an individual’s chromosomes, used to examine their number and structure. Chromosome analysis made the extra chromosome visible in cells from people with Down syndrome.
Raymond Turpin: A French pediatrician and geneticist who studied hereditary causes of intellectual disability. He led the research group in which Lejeune and Gautier investigated Down syndrome.
Pontifical Academy for Life: A Vatican institution that studies bioethical questions concerning human life and health. Lejeune became its first president in 1994, shortly before his death.
Prenatal screening: Testing during pregnancy that estimates the chance of a fetal condition without necessarily establishing a diagnosis. Screening became a widespread use of genetic knowledge that Lejeune publicly criticized.

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