Jérôme Lejeune bigraphy, stories - French physician

Jérôme Lejeune : biography

June 13, 1926 - April 3, 1994

Jérôme Jean Louis Marie Lejeune (June 13, 1926 – April 3, 1994) was a French pediatrician and geneticist, best known for his discovery of the link of diseases to chromosome abnormalities.

Honors, awards and credentials

Jérôme Lejeune received many distinctions during his lifetime. He was a member of:

  • the French Institute’s Academy of Moral and Political Sciences
  • the French Academy of Medicine
  • the Pontifical Academy of Sciences
  • the Lyncean Academy in Rome
  • the American Academy of Arts and Sciences
  • the Royal Swedish Academy
  • the National Academy of Medicine in Argentina
  • the University of Santiago, Chile

Dr. Lejeune held honorary doctorates from:

  • University of Düsseldorf, Germany
  • University of Pamplona, Spain
  • University of Buenos Aires, Argentina
  • Pontifical Catholic University of Chile

His international positions included:

  • World Health Organization (WHO)

Consulting expert on human genetics (1962)

  • International Commission on Radiological Protection

Committee member (1963)

  • United Nations

French expert to the Scientific Committee on the Effects of Atomic Radiation


Discovering Trisomy 21

In 1958, while working in Raymond Turpin’s laboratory, Jérôme Lejeune discovered that Down syndrome was caused by an extra chromosome on the 21st pair. The French Academy of Sciences published his scientific work on January 26, 1959. For the first time in world history, his discovery established a link between an intellectual disability and a chromosomal abnormality.

Origins of the discovery

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 witDown 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.

The laboratory notebook begun by Dr. Lejeune on July 10, 1957 indicates that on May 22, 1958, he succeeded in showing, for the first time, the presence of 47 chromosomes in a child with Down syndrome. This was only two years after Tjio and Levan had proven that the human species has 46 chromosomes. On June 13, 1958, Dr. Lejeune identified an additional case, and a photo of the karyotype met with skeptical interest at the International Congress of Genetics in Montreal. The international community did not grasp the full impact of his discovery until January 26, 1959, when the French Academy of Sciences published the team’s first paper presenting three case studies of children with Down syndrome.

On March 16, 1959, another presentation to the Academy of Sciences confirmed the team’s initial publication, this time covering nine cases. In April 1959, the English team of Brown and Jacobs corroborated these results, citing the initial January 1959 publication by Lejeune, Gautier, and Turpin. “Mongolism” had become Trisomy 21.

The discovery opened up an enormous field of investigation for modern genetics and laid the foundation for a new discipline: cytogenetics. Until then, the laws of human heredity had been unable to explain Trisomy 21 and other anomalies in hereditary material. Jérôme Lejeune was now driven by a single ambition: to find a treatment that would bring relief to his patients as quickly as possible.

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Living octopus

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