Fiftieth anniversary of trisomy 21: returning to a discovery

@article{Gautier2009FiftiethAO,
  title={Fiftieth anniversary of trisomy 21: returning to a discovery},
  author={Marthe Gautier and P S Harper},
  journal={Human Genetics},
  year={2009},
  volume={126},
  pages={317-324}
}
Fifty years ago, I was the co-author of the first paper that showed the presence of an additional chromosome (Lejeune et al. 1959) in the syndrome identified by Langdon Down in 1866 and commonly known as ‘‘mongolism’’ in France at the time. This, the first autosomal chromosome aberration recognised in the cells of the human species, was named trisomy 21. I thought it would be of historical interest to bring my own personal testimony as an actor in that discovery. 

Figures from this paper

On the paternal origin of trisomy 21 Down syndrome
TLDR
It would appear that most female fetuses are T21 ovarian mosaics, while in sharp contrast most male fetuses may be either very low grade T21 testicular mosaics or they may be non-mosaics.
Jérôme Lejeune (1926−1994)
Jérôme Lejeune was a French physician and researcher who studied genetics and developmental disorders. According to the Jérôme Lejeune Foundation, in 1958, Lejeune discovered that the existence of an
How genetics came to the unborn: 1960-2000.
  • I. Löwy
  • Biology, Medicine
    Studies in history and philosophy of biological and biomedical sciences
  • 2014
TLDR
This study argues that the 'geneticization' of PND reflected the transformation of the meaning of the term 'genetics' in the 1960s and 70s, and was linked with the definition of Down syndrome as a genetic condition, and to the key role of search for this condition in the transformed into a routine approach.
Germinal and Somatic Trisomy 21 Mosaicism: How Common is it, What are the Implications for Individual Carriers and How Does it Come About?
TLDR
The risk of begetting a child with Trisomy 21 Down syndrome most likely is related to the incidence of Trisome 21 cells in the germ line of any carrier parent, and the reproductive and clinical implications of this type of aneuploidy mosaicism for individual carriers are highlighted.
A time stamp comparative analysis of frequent chromosomal abnormalities in Romanian patients
  • N. Suciu, V. Plaiasu
  • Medicine
    The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians
  • 2014
TLDR
In this study, 411 cases were analyzed over a period of 5 years, which reflected the incidence of cytogenetic abnormalities in Romania, and Down syndrome showed the highest frequency at 79%.
Some pioneers of European human genetics.
  • P. Harper
  • Biology, Medicine
    European journal of human genetics : EJHG
  • 2017
TLDR
Some of the pioneers of human genetics across Europe are described, based on a series of 100 recorded interviews made by the author, using the memories of earlier workers in the field recalled by interviewees, to provide a vivid picture of the early years of human and medical genetics.
The role of chromosome 21 in hematology and oncology
  • C. Fonatsch
  • Biology, Medicine
    Genes, chromosomes & cancer
  • 2010
TLDR
The specific forms of myeloid leukemia as well as of acute lymphoblastic leukemia in children with DS are presented and possible explanations for the paucity of solid tumors in DS will be given.
How diseases became "genetic".
  • I. Löwy
  • Medicine
    Ciencia & saude coletiva
  • 2019
TLDR
In the late 20th and early 21st century, new genomic technologies blurred the distinction between hereditary and genetic impairments, extended the concept of genetic disease, and modified the experience of people living with such a disease.
Synthesis, convergence, and differences in the entangled histories of cytogenetics in medicine: A comparative study of Canada and Mexico.
  • W. Leeming, A. Barahona
  • Medicine, Political Science
    Studies in history and philosophy of biological and biomedical sciences
  • 2018
TLDR
It is argued that the field of cytogenetics did not emerge in a straightforward manner and develop in the same way in all countries, and directions for future study are proposed on the ways in which circuits of practices, collaborative research, and transfers of knowledge have shaped how cytogenetic has come to be organised in medicine around the world.
What We Should Not Forget about Down Syndrome
TLDR
Neuroradiologists should be aware of the multitude of imaging findings in patients with Down syndrome to correctly identify and diagnose life-altering conditions associated with this syndrome.
...
1
2
...

References

SHOWING 1-10 OF 46 REFERENCES
Cinquantenaire de la trisomie 21: retour sur une découverte.
Fifty years ago, I was co-author of the first paper asserting the presence of a supernumerary chromosome in Down’s syndrome (called « mongolism » in France at that time). This first autosomal
The discovery of the human chromosome number in Lund, 1955–1956
  • P. Harper
  • Biology, Medicine
    Human Genetics
  • 2005
TLDR
The background to the discovery and the surrounding factors are reassessed, as are the reasons why previous investigators persistently misidentified the precise number of the human diploid chromosome number.
“First years of human chromosomes” The Beginnings of Human Cytogenetics, Peter S. Harper, 2006
TLDR
This delightful book marks the 50th anniversary of the Wrst publication of the correct chromosome number in man by Tijo and Levan in 1956 with a major scientiWc advance and summarising the achievements of the founders of medical cytogenetics.
[Nettie Maria Stevens (1861-1912)].
Nettie M. Stevens is one of the first women who contributed to genetic research. She discovered the role of sex chromosomes in sex determination during the first decade of the twentieth century.
First Years of Human Chromosomes
TLDR
This book describes the growth of human and clinical cytogenetics in later years and concludes that chromosome basis of Down's syndrome and the next steps in technology and nomenclature are likely to be related.
The chromosome number in man
TLDR
The chromosome number has been determined in an Indian female adult, the first to be reported in this ethnic group, and showed no variation from those of normal, healthy females of other racial groups so far described in the literature.
The history of cytogenetics. Portraits of some pioneers.
TLDR
It has not always been so and if, henceforth, human cytogenetics plays an authoritative role in the classification of animal and vegetable karyotypes, it would be wrong to forget that all began with flies and corn.
Gene Action in the X-chromosome of the Mouse (Mus musculus L.)
  • M. Lyon
  • Biology, Medicine
    Nature
  • 1961
TLDR
Ohno and Hauschka1 showed that in female mice one chromosome of mammary carcinoma cells and of normal diploid cells of the ovary, mammary gland and liver was heteropyKnotic and suggested that the so-called sex chromatin was composed of one heteropyknotic X-chromosome.
Chromatid associations in acrocentric chromosomes: evidence against nonrandomness.
TLDR
Acrocentric chromosome associations from peripheral blood cultures of four normal individuals were examined after two replication cycles in bromodeoxyuridine using the FPG technique and found no evidence for a nonrandom alignment of chromatids in associated acrocentric chromosomes.
Gamma Globulin against Rubella in Pregnancy: II. Manifest Maternal Rubella in Early Pregnancy Treated with Convalescent Gamma Globulin: a Follow‐Up Study
TLDR
Administration of antibodies to women with manifest rubella in early pregnancy did not succeed in preventing foetal damage.
...
1
2
3
4
5
...