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Jérôme Jean Louis Marie Lejeune (; 13 June 1926 – 3 April 1994) was a French
pediatrician Pediatrics (American English) also spelled paediatrics (British English), is the branch of medicine that involves the medical care of infants, children, adolescents, and young adults. In the United Kingdom, pediatrics covers many of their youth ...
and
geneticist A geneticist is a biologist or physician who studies genetics, the science of genes, heredity, and variation of organisms. A geneticist can be employed as a scientist or a lecturer. Geneticists may perform general research on genetic process ...
. He is best known for his work on the links between
chromosome abnormalities A chromosomal abnormality, chromosomal anomaly, chromosomal aberration, chromosomal mutation, or chromosomal disorder is a missing, extra, or irregular portion of chromosomal DNA. These can occur in the form of numerical abnormalities, where ther ...
and diseases like Down Syndrome ( trisomy-21) and cri du chat syndrome. He is also known for his subsequent strong opposition to the use of
amniocentesis Amniocentesis is a medical procedure used primarily in the prenatal diagnosis of genetic conditions. It has other uses such as in the assessment of infection and fetal lung maturity. Prenatal diagnostic testing, which includes amniocentesis, is ...
prenatal testing Prenatal testing is a tool that can be used to detect some birth defects at various stages prior to birth. Prenatal testing consists of prenatal screening and prenatal diagnosis, which are aspects of prenatal care that focus on detecting problem ...
for
eugenic Eugenics is a set of largely discredited beliefs and practices that aim to improve the genetic quality of a human population. Historically, eugenicists have attempted to alter the frequency of various human phenotypes by inhibiting the ferti ...
purposes through selective and elective
abortion Abortion is the early termination of a pregnancy by removal or expulsion of an embryo or fetus. Abortions that occur without intervention are known as miscarriages or "spontaneous abortions", and occur in roughly 30–40% of all pregnan ...
. He is venerated in the
Catholic Church The Catholic Church (), also known as the Roman Catholic Church, is the List of Christian denominations by number of members, largest Christian church, with 1.27 to 1.41 billion baptized Catholics Catholic Church by country, worldwid ...
, having been declared
Venerable ''The Venerable'' often shortened to Venerable is a style, title, or epithet used in some Christianity, Christian churches. The title is often accorded to holy persons for their spiritual perfection and wisdom. Catholic In the Catholic Churc ...
by
Pope Francis Pope Francis (born Jorge Mario Bergoglio; 17 December 1936 – 21 April 2025) was head of the Catholic Church and sovereign of the Vatican City State from 13 March 2013 until Death and funeral of Pope Francis, his death in 2025. He was the fi ...
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 Chromosome 21 is one of the 23 pairs of chromosomes in humans. Chromosome 21 is both the smallest human autosome and chromosome, with 46.7 million base pairs (the building material of DNA) representing about 1.5 percent of the total DNA in cell ...
. 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 A fibroblast is a type of cell (biology), biological cell typically with a spindle shape that synthesizes the extracellular matrix and collagen, produces the structural framework (Stroma (tissue), stroma) for animal Tissue (biology), tissues, and ...
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. As early as 1953, the two men showed a connection between an individual's characteristics and his or her dermatoglyphs–the 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. In 1956, biologists from Lund University in Sweden announced that humans have exactly 46 chromosomes. Turpin had many years earlier proposed the idea of culturing cells to count the number of chromosomes in trisomy. Gautier had recently joined the pediatrics group he headed at the Armand-Trousseau Hospital, and she offered to attempt this, since she had been trained in both cell culture and tissue staining techniques in the United States. Turpin agreed to provide her with tissue samples from patients with Down syndrome. With very limited resources Gautier set up the first in vitro cell culture laboratory in France And discovered the chromosome discrepancy and tissue samples of
trisomy A trisomy is a type of polysomy in which there are three instances of a particular chromosome, instead of the normal two. A trisomy is a type of aneuploidy (an abnormal number of chromosomes). Description and causes Most organisms that reprod ...
patients. At the time, the laboratories at the Armand-Trousseau hospital did not have a microscope capable of capturing images of the slides. Gautier entrusted her slides to Lejeune, a fellow researcher at CNRS, who offered to take pictures in another laboratory better equipped for this task. In August 1958 the photographs identified the supernumerary chromosome in Down syndrome patients. The laboratory notebook begun by Lejeune on 10 July 1957 indicates that on 22 May 1958 he succeeded in showing, for the first time, the presence of 47 chromosomes in a child with Down syndrome. This was two years after Tjio and Levan had proven that the human species has 46 chromosomes. On 13 June 1958, 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 26 January 1959, when the French Academy of Sciences published the team's first paper presenting three case studies of children with Down syndrome. In January 1959, by studying new cases and to forestall similar research by the English, the Trousseau laboratory announced the results of the analysis of the slides in the Proceedings of the Academy of Sciences through a paper published with Lejeune as first author, Gautier second (her surname misspelled as "Gauthier") and Turpin last author. On 16 March 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 A trisomy is a type of polysomy in which there are three instances of a particular chromosome, instead of the normal two. A trisomy is a type of aneuploidy (an abnormal number of chromosomes). Description and causes Most organisms that repro ...
. The discovery opened up a new field of investigation for modern genetics and laid the foundation for a new discipline:
cytogenetics Cytogenetics is essentially a branch of genetics, but is also a part of cell biology/cytology (a subdivision of human anatomy), that is concerned with how the chromosomes relate to cell behaviour, particularly to their behaviour during mitosis an ...
.


Dispute of the discovery

Gautier has criticized the portrayal of Lejeune as the sole discoverer of trisomy 21. She has stated in interviews and in a 2009 article in the journal '' Médecine/Sciences'' that she worked without assistance from Lejeune to develop the necessary
cytological Cell biology (also cellular biology or cytology) is a branch of biology that studies the structure, function, and behavior of cells. All living organisms are made of cells. A cell is the basic unit of life that is responsible for the living an ...
and
histological Histology, also known as microscopic anatomy or microanatomy, is the branch of biology that studies the microscopic anatomy of biological tissue (biology), tissues. Histology is the microscopic counterpart to gross anatomy, which looks at large ...
resources and techniques, and used these to prepare microscope slides showing the trisomy. By her account, Lejeune took her slides away under the pretence of having them photographed for her, but instead presented them as his own work at a conference and in a subsequent publication. Jean-Marie Le Méné, president of the Jérôme Lejeune Foundation, maintains that there is no evidence that Gautier made the key discovery. Gautier does not dispute that Lejeune identified the 47th chromosome as an extra copy of chromosome 21, but maintains that she was the first the notice the abnormal count. In a personal letter from 5 November 1958 to Gautier, Lejeune wrote appreciatively about her "preparations" that were instrumental to the discovery, and Gautier appeared as co-author on two seminal papers: one on the discovery of trisomy 21 and a second one about the cell culture techniques that Gautier had learned during a scholarship (1955–1956) at Harvard, Boston which made the discovery possible.


Later research and recognition

Continuing his work in genetics, Lejeune described several other diseases related to chromosomal abnormalities. In 1963 he identified
Cri du Chat Cri du chat syndrome is a rare genetic disorder due to a partial chromosome deletion on chromosome 5. Its name is a French term ("cat-cry" or " call of the cat") referring to the characteristic cat-like cry of affected children. It was first ...
syndrome, caused by a missing segment in the short arm of
chromosome 5 Chromosome 5 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 5 spans about 182 million base pairs (the building blocks of DNA) and represents almost 6% of the total DNA in cells. Ch ...
, and in 1966 he described 18q-Syndrome, which results from loss of the distal portion of the long arm of chromosome 18. Lejeune also discovered the Dr phenotype (a malformation syndrome in which a ring-shaped chromosome replaces
chromosome 13 Chromosome 13 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 13 spans about 113 million base pairs (the building material of DNA) and represents between 3.5 and 4% of the total DNA i ...
), and he identified trisomies on
chromosome 9 Chromosome 9 is one of the 23 pairs of chromosomes in humans. Humans normally have two copies of this chromosome, as they normally do with all chromosomes. Chromosome 9 spans about 138 million base pairs of nucleic acids (the building blocks of DN ...
in 1970 and
chromosome 8 Chromosome 8 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 8 spans about 146 million base pairs (the building material of DNA) and represents between 4.5 and 5.0% of the total DNA i ...
in 1971. In a 1963 presentation before the
French Academy of Sciences The French Academy of Sciences (, ) is a learned society, founded in 1666 by Louis XIV at the suggestion of Jean-Baptiste Colbert, to encourage and protect the spirit of French Scientific method, scientific research. It was at the forefron ...
, Lejeune showed that monosomy—the absence of a specific segment of the
genome A genome is all the genetic information of an organism. It consists of nucleotide sequences of DNA (or RNA in RNA viruses). The nuclear genome includes protein-coding genes and non-coding genes, other functional regions of the genome such as ...
—could also result in a clinically recognizable disease. Several years later, a group of American scientists came to Paris to conduct an independent investigation of Lejeune's discovery, and in 1962 the President of the United States personally presented him with the Kennedy Prize. In 1964, the first chair of human genetics was created at the Paris School of Medicine, and Lejeune was named to fill it. The appointment was highly unusual: only a groundbreaking discovery allowed a candidate to be named a professor of medicine without successfully completing a competitive residency examination. In 1969, Lejeune's work earned him the William Allan Award from the American Society of Human Genetics. he was the only Frenchman to have won it.


Human Rights Advocacy

Although Lejeune's discoveries paved the way for new therapeutic research into how changes in gene copy number could cause disease, they also led to the development of prenatal diagnosis of chromosome abnormalities and thence to abortions of affected pregnancies. This was very distressing to Lejeune, a devout
Catholic The Catholic Church (), also known as the Roman Catholic Church, is the List of Christian denominations by number of members, largest Christian church, with 1.27 to 1.41 billion baptized Catholics Catholic Church by country, worldwid ...
, and led him to begin his fight for the anti-abortion cause. Lejeune opposed the authorization in 1967 for women to use contraception as well as the Peyret laws in 1970 to render legal the interruption of pregnancy in case of fetal abnormalities. He also opposed the Veil Law ("Loi Veil" 1975) authorizing voluntary interruption of pregnancy. After receiving the Allan prize, Lejeune gave a talk to his colleagues which concluded by explicitly questioning the morality of abortion, an unpopular viewpoint in the profession. In a letter to his wife, Lejeune wrote "today, I lost my Nobel prize in Medicine." In 1975, after one of his public appearances in Paris on the beginning of life, Lejeune met Wanda Półtawska, director of the Catholic Institute for the Family in
Kraków , officially the Royal Capital City of Kraków, is the List of cities and towns in Poland, second-largest and one of the oldest cities in Poland. Situated on the Vistula River in Lesser Poland Voivodeship, the city has a population of 804,237 ...
. Later that year, Półtawska contacted Lejeune twice, asking him to speak at conferences on the beginning of life that she was organizing with one of her close friends, Monsignor Karol Wojtyla, then Cardinal-Archbishop of Krakow. On 16 October 1978 Wojtyla was elected Pope
John Paul II Pope John Paul II (born Karol Józef Wojtyła; 18 May 19202 April 2005) was head of the Catholic Church and sovereign of the Vatican City State from 16 October 1978 until Death and funeral of Pope John Paul II, his death in 2005. In his you ...
. Afterward, Lejeune regularly traveled to
Rome Rome (Italian language, Italian and , ) is the capital city and most populated (municipality) of Italy. It is also the administrative centre of the Lazio Regions of Italy, region and of the Metropolitan City of Rome. A special named with 2, ...
to meet with the pope, to attend meetings of the
Pontifical Academy of Sciences The Pontifical Academy of Sciences (, ) is a Academy of sciences, scientific academy of the Vatican City, established in 1936 by Pope Pius XI. Its aim is to promote the progress of the mathematical, physical, and natural sciences and the study ...
, and to participate in other church events, such as the 1987
Synod A synod () is a council of a Christian denomination, usually convened to decide an issue of doctrine, administration or application. The word '' synod'' comes from the Ancient Greek () ; the term is analogous with the Latin word . Originally, ...
of Bishops. The pope wanted to name Lejeune as the president of a new pontifical academy that was dear to his heart: the
Pontifical Academy for Life The Pontifical Academy for Life or Pontificia Accademia per la Vita is a Pontifical Academy of the Catholic Church dedicated to promoting the Church's consistent life ethic. It also does related research on bioethics and Catholic moral theology. ...
. Lejeune painstakingly drafted its bylaws and the oath of the Servants of Life that each member of the academy must take.


Illness and death

Lejeune was diagnosed with
lung cancer Lung cancer, also known as lung carcinoma, is a malignant tumor that begins in the lung. Lung cancer is caused by genetic damage to the DNA of cells in the airways, often caused by cigarette smoking or inhaling damaging chemicals. Damaged ...
in November 1993. Lejeune served as president of the Academy for only a few weeks before his death in April 1994. A few years later, during his visit to Paris for
World Youth Day World Youth Day (WYD) is an event for the youth organized by the Catholic Church that was initiated by Pope John Paul II in 1985. Its concept has been influenced by the Light-Life Movement that has existed in Poland since the 1960s, where dur ...
1997, John Paul II visited Lejeune's grave in Châlo-Saint-Mars.


Veneration

Lejeune was named "Servant of God" by the Catholic Church upon the opening of his cause for
canonization Canonization is the declaration of a deceased person as an officially recognized saint, specifically, the official act of a Christianity, Christian communion declaring a person worthy of public veneration and entering their name in the canon ca ...
, which is being postulated by the
Abbey of Saint Wandrille Fontenelle Abbey or the Abbey of St. Wandrille is a Benedictine monastery in the commune of Rives-en-Seine. It was founded in 649 near Caudebec-en-Caux in Seine-Maritime, Normandy, France. First foundation It was founded by Wandregisel (d. ...
in France. On 21 January 2021,
Pope Francis Pope Francis (born Jorge Mario Bergoglio; 17 December 1936 – 21 April 2025) was head of the Catholic Church and sovereign of the Vatican City State from 13 March 2013 until Death and funeral of Pope Francis, his death in 2025. He was the fi ...
declared Lejeune's heroic virtues, and Lejeune was named "
Venerable ''The Venerable'' often shortened to Venerable is a style, title, or epithet used in some Christianity, Christian churches. The title is often accorded to holy persons for their spiritual perfection and wisdom. Catholic In the Catholic Churc ...
".


Honors, awards and credentials

Jérôme Lejeune received many distinctions during his lifetime. He was a member of: * the
French Institute The ; ) is a French learned society, grouping five , including the . It was established in 1795 at the direction of the National Convention. Located on the Quai de Conti in the 6th arrondissement of Paris, the institute manages approximately ...
’s Academy of Moral and Political Sciences * the French Academy of Medicine * the
Pontifical Academy of Sciences The Pontifical Academy of Sciences (, ) is a Academy of sciences, scientific academy of the Vatican City, established in 1936 by Pope Pius XI. Its aim is to promote the progress of the mathematical, physical, and natural sciences and the study ...
* the
Lyncean Academy The (; literally the "Academy of the Lynx-Eyed"), anglicised as the Lincean Academy, is one of the oldest and most prestigious European scientific institutions, located at the Palazzo Corsini, Rome, Palazzo Corsini on the Via della Lungara in Ro ...
in
Rome Rome (Italian language, Italian and , ) is the capital city and most populated (municipality) of Italy. It is also the administrative centre of the Lazio Regions of Italy, region and of the Metropolitan City of Rome. A special named with 2, ...
* the
American Academy of Arts and Sciences The American Academy of Arts and Sciences (The Academy) is one of the oldest learned societies in the United States. It was founded in 1780 during the American Revolution by John Adams, John Hancock, James Bowdoin, Andrew Oliver, and other ...
* the
Royal Swedish Academy The Royal Swedish Academy of Sciences () is one of the Swedish Royal Academies, royal academies of Sweden. Founded on 2 June 1739, it is an independent, non-governmental scientific organization that takes special responsibility for promoting nat ...
* the National Academy of Medicine in Argentina * the University of Santiago,
Chile Chile, officially the Republic of Chile, is a country in western South America. It is the southernmost country in the world and the closest to Antarctica, stretching along a narrow strip of land between the Andes, Andes Mountains and the Paci ...
Lejeune held
honorary doctorates An honorary degree is an academic degree for which a university (or other degree-awarding institution) has waived all of the usual requirements. It is also known by the Latin phrases ''honoris causa'' ("for the sake of the honour") or ''ad hono ...
from: *
University of Düsseldorf A university () is an institution of tertiary education and research which awards academic degrees in several academic disciplines. ''University'' is derived from the Latin phrase , which roughly means "community of teachers and scholars". Univ ...
, Germany *
University of Navarra The University of Navarra is a private Catholic research university located on the southeast border of Pamplona, Navarre, Spain. It was founded in 1952 by Saint Josemaría Escrivá de Balaguer, the founder of '' Opus Dei'', as a corporat ...
, Spain *
University of Buenos Aires The University of Buenos Aires (, UBA) is a public university, public research university in Buenos Aires, Argentina. It is the second-oldest university in the country, and the largest university of the country by enrollment. Established in 1821 ...
, Argentina *
Pontifical Catholic University of Chile The Pontifical Catholic University of Chile (UC Chile; ) is a traditional private university based in Santiago, Chile. It is one of the thirteen Catholic universities existing in Chilean university system and one of the two pontifical univ ...
His international positions included: *
World Health Organization The World Health Organization (WHO) is a list of specialized agencies of the United Nations, specialized agency of the United Nations which coordinates responses to international public health issues and emergencies. It is headquartered in Gen ...
(WHO) Consulting expert on
human genetics Human genetics is the study of inheritance as it occurs in Human, human beings. Human genetics encompasses a variety of overlapping fields including: classical genetics, cytogenetics, molecular genetics, biochemical genetics, genomics, populatio ...
(1962) * International Commission on Radiological Protection Committee member (1963) *
United Nations The United Nations (UN) is the Earth, global intergovernmental organization established by the signing of the Charter of the United Nations, UN Charter on 26 June 1945 with the stated purpose of maintaining international peace and internationa ...
** French expert to the Scientific Committee on the Effects of Atomic Radiation


Selected works


Life is a Blessing
by Clara Lejeune
The Concentration Can
by Jérôme Lejeune

by Robert L. Sassone, Jerome Lejeune, Albert W. Liley
Jérôme Lejeune
by Anne Bernet
Le Professeur Lejeune – Fondateur de la Génétique Moderne
by Jean-Marie Le Méné


See also

* List of lay Catholic scientists *
List of Christians in science and technology This is a list of Christians in science and technology. People in this list should have their Christianity as relevant to their notable activities or public life, and who have publicly identified themselves as Christians or as of a Christian deno ...


References


External links


The Jérôme Lejeune Foundation


* ttp://www.institutlejeune.org/index.php Institut Lejeune
The Lejeune Foundation USA
{{DEFAULTSORT:Lejeune, Jerome 1926 births 1994 deaths People from Montrouge Collège Stanislas de Paris alumni French Roman Catholics French pediatricians French anti-abortion activists Members of the Académie des sciences morales et politiques Members of the Pontifical Academy of Sciences Members of the Royal Swedish Academy of Sciences Deaths from lung cancer in France Venerated Catholics by Pope Francis