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Fiftieth anniversary of trisomy 21: returning to a discovery

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Notes

  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.

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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.

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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

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Keywords

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