Springer Nature is making SARS-CoV-2 and COVID-19 research free. View research | View latest news | Sign up for updates

Fiftieth anniversary of trisomy 21: returning to a discovery

This is a preview of subscription content, log in to check access.

Fig. 1
Fig. 2


  1. 1.

    By a slip of the pen that I dare not interpret, my name was wrongly entered as “Marie Gauthier”. The error was corrected in subsequent publications.

  2. 2.

    One of his children had just died from Bouillaud’s Disease because of a lack of cortisone in France and he had founded the Society of Study and Care for Children with Acute Rheumatic Fever and Congenital Cardiopathy.

  3. 3.

    Jean Aicardi went on to pursue a brilliant national and international career establishing child neurology, and one syndrome is named after him. Jacques Couvreur, meanwhile, divided his life between hospitals and private clients and was the national reference point for the treatment of congenital toxoplasmosis.

  4. 4.

    Although the National Institute of Hygiene was created in 1941, reforms were not made until 1958.

  5. 5.

    Mmes Macé & Gavaïni.

  6. 6.

    I was very busy at the time, with part time work at Hôpital Bicêtre in the CC (congenital cardiopathy) nursery departments, ARF consultations, and the start of my private practice.

  7. 7.

    It was an irony of cytogenetic history that after the Denver classification of 1960, it was subsequently noted that this chromosome was smaller and therefore corresponded to the 22nd pair, but everything remained in that order in order not to confuse the wealth of literature already available on the subject.

  8. 8.

    Or at least, one who claims to be a miracle worker.

  9. 9.

    See interview with André Boué, January 2001. History of INSERM: http://infodoc.inserm.fr/histoire.


  1. Böök JA, Fraccaro M, Lindsten J (1959) Cytogenetical observations in mongolism. Acta Paediatr 48:453–468

  2. Davenport CB (1932) Mendelism in man. Proceedings of the Sixth International Congress of Genetics. vol 1. Ithaca, New York, pp 135–140

  3. Dutrillaux B, Lejeune J (1971) Sur une nouvelle technique d’analyse du caryotype humain. C R Acad Sci Paris 272:2638–2640

  4. Ford CE, Jones KW, Polani PE, de Almeida JC, Briggs JH (1959) A sex chromosome anomaly in a case of gonadal dysgenesis (Turner’s syndrome). Lancet 1:711–713

  5. Fraccaro M (2004) Interview of the author with Marco Fraccaro

  6. Gautier M (2009) Cinquantenaire de la trisomie 21; Retour sur une découverte. Med Sci (Paris) 25:311–316

  7. Gilgenkrantz S, Rivera EM (2003) The history of cytogenetics: portraits of some pioneers. Ann Genet 46:433–442

  8. Harper PS (2006a) First Years of Human Chromosomes: the Beginnings of Human Cytogenetics. Scion, Oxford

  9. Harper PS (2006b) The discovery of the human chromosome number in Lund, 1955–1956. Hum Genet 119:226–232

  10. Jacobs PA (1982) The William Allan Memorial Award address: human population cytogenetics: the first twenty-five years. Am J Hum Genet 34:961–965

  11. Jacobs PA (2004) Interview of the author with Patricia Jacobs

  12. Jacobs PA, Strong JA (1959) A case of human intersexuality having a possible XXY sex-determining mechanism. Nature 183:302–303

  13. Jacobs PA, Baikie AG, Court Brown WM, Strong JA (1959) The somatic chromosomes in mongolism. Lancet 1:710

  14. Lejeune J, Lafourcade J (1968) Deficiency of long arm of chromosome 18 (18q). Union Med Can 97(7):936–940

  15. Lejeune J, Gautier M, Turpin R (1959) Les chromosomes humains en culture de tissus. C R Acad Sci 248:602–603

  16. Lejeune J, Lafourcade J, Berger R, Vialatte J, Boeswillwald M, Seringe P, Turpin R (1963) Trois cas de délétion partielle du bras court d’un chromosome 5. C R Acad Sci (D) 257:3098–3102

  17. Maddox B (2002) Rosalind Franklin: the Dark Lady of DNA. Harper Collins, London

  18. Polani PE (2003) Interview of the author with Paul Polani

  19. Polani PE, Briggs JH, Ford CE, Clarke CM, Berg JM (1960) A mongol girl with 46 chromosomes. Lancet 1:721–724

  20. Tjio J-H, Levan A (1956) The chromosome number of man. Hereditas 42:1–6

  21. Waardenburg PL (1932) Das Menschliche Auge und Seine Erbenlangen. Den Haag: Nijhoff; 47–48. (A translation of the relevant passage by the author appeared in Vogel F, Motulsky A (1986) Human Genetics: Problems and Approaches, 2nd edn. Springer, New York)

Download references

Author information

Correspondence to Peter S. Harper.

Additional information

This article by Marthe Gautier was translated from the French by Cardiff University Centre for Lifelong Learning and Peter S. Harper. The commentary is by Peter Harper. Originally published in Médecine Sciences [Gautier M (2009) Cinquantenaire de la trisomie 21. Retour sur une découverte. Med Sci (Paris) 25(3): 311–315], this article now reappears in English by kind permission of the publisher, Éditions EDK.

Rights and permissions

Reprints and Permissions

About this article

Cite this article

Gautier, M., Harper, P.S. Fiftieth anniversary of trisomy 21: returning to a discovery. Hum Genet 126, 317–324 (2009). https://doi.org/10.1007/s00439-009-0690-1

Download citation


  • Nobel Prize
  • Turner Syndrome
  • Acute Rheumatic Fever
  • Congenital Toxoplasmosis
  • Fiftieth Anniversary