- A dictionary of medical eponyms

Jérôme Jean Louis Marie Lejeune

Born  1926
Died  1994

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French paediatrician, born June 13, 1926; died April 3, 1994.

Biography of Jérôme Jean Louis Marie Lejeune

Jérôme Jean Louis Marie Lejeune is remembered for his identification of the human chromosomal abnormality linked to Down's syndrome, or trisomy 21. Lejeune thus confirmed Petrus Johannes Waardenburg's (1886-1979) theory from 1932 that Down's syndrome might be the consequence of a chromosomal aberration. Down's was the first chromosomal disorder to be positively identified.

We thank Joseph Constantine for information submitted.


  • J. Lejeune, R. Turpin and M. Gautier:
    Le mongolisme. Premier example d'aberration autosomique humaine.
    Annales de génétique, Paris, 1958/1959, 1: 41-49.
    The authors discovered an extra chromosome in the nuclei of cells obtained from children with Down's syndrome.
  • J. Lejeune, Marthe Gautier, and Raymond Alexandre Turpin:
    Mongolisme; une maladie chromosomique (trisomy).
    Bulletin de l'Académie nationale de médecine, Paris, 1959, 143, 256-265.
  • J. Lejeune, M Gautier and Raymond Alexandre Turpin:
    Etude des chromosomes somatiques de neuf enfants mongoliens.
    Comptes rendus de l'Académie des Sciences. Série III : Sciences de la vie, Paris, March 16, 1959, 248 (11),1721–1722.
  • Jerome, H., Lejeune and R. Turpin:
    Etude de l'excretion urinaire de certains metabolites du tryptophane chez les enfants mongoliens.
    Comptes rendus hebdomadaire des séances de l'Académie des Sciences, Paris,1960, 251: 474-476.
  • J. Lejeune, et al:
    Sur un cas 47; XY(?18q-). Annales de génétique, Paris, 1970, 13: 47-51.
  • J. Lejeune, et al:
    Acides amines et trisomie 21. Annales de Génétique, 1992, 35: 8-13.
    English translation in: Down Syndrome Today Summer issue 1992: 27-29.

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