332:. Although the principle of cell culture is simple, there were many practical obstacles to getting it to work under the primitive conditions available to Gautier, who was forced to use a personal loan to purchase laboratory glassware and, at times, her own blood as a source of human serum. She eventually confirmed that the protocol worked, using connective tissue from a neighbouring surgeon, taken during planned interventions in children. She used the "hypotonic shock" method followed by drying the slide after attachment in order to disperse the chromosomes of dividing cells and make them easier to count.
384:
history of science, and the process of validating knowledge remains very different... As the discovery of trisomy would have been impossible without the mandatory contributions of
Raymond Turpin and Marthe Gautier, it is regrettable that their names were not systematically associated with this discovery, as much in terms of communication but also in the assignment of various awards and distinctions."
348:, 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. However Lejeune did not return the slides, but instead reported the discovery as his own.
363:
In April 1960, the condition was named trisomy 21. As of 1970 the
Lejeune foundation started to promote the discovery as primarily the work of Lejeune. Gautier claimed in 2009 that she was put to one side by Turpin and by Lejeune who claimed responsibility for the discovery, even though it relied on
383:
The ethics committee of the INSERM has issued a note in July 2014, reminding of the decisive role of Marthe
Gautier, and has built upon this case to remind of the international rules for scientific publications and listing authors. The note states that "history of discovery is not identical to the
351:
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
406:
After the trisomy discovery
Gautier left Turpin's team and applied for a position in public health care to dedicate herself to cardio-pediatrics. She was hired by Professor Nouaille in a newly opened service at the Hospital Kremlin Biccetre. Subsequently, she became Master of Research at the
379:
for bailiffs to be sent to film this session. At the last minute, concerned that the recording might be used in legal proceedings it could not afford to defend, the congress organizers decided to cancel her presentation and she received her award privately instead.
335:
Using this protocol, Gautier found that the cells of normal children have 46 chromosomes. In May 1958, she observed an additional chromosome in the cells of a trisomic boy, the first evidence of chromosomal abnormalities in individuals with Down syndrome.
193:
Marthe
Gautier discovered a vocation for pediatrics at an early age. In 1942 she joined her sister Paulette who was about to complete her medical studies in Paris intending to become a pediatrician. She passed the entrance exam of the "Internat des
367:
The Jérôme
Lejeune Foundation asserts that a letter from Turpin to Lejeune in October 1958 shows that Lejeune, and not Gautier, identified the 47th chromosome. The Foundation maintains that there is no evidence that Gautier made the key discovery.
33:
391:
and was decorated on 16 September 2014. Marthe
Gautier has, in the past, declined this distinction twice before consenting to it "by indignation towards the impudence of the Lejeune Foundation".
364:
the work that she had initiated and directed technically. Aware of having been manipulated
Gautier decided to abandon trisomy 21 and to return to caring for children affected by cardiopathy.
227:
in order to acquire knowledge in pediatric cardiology with two main objectives. The first was to eradicate rheumatic fever, using penicillin and the treatment of sometimes life-threatening
906:
567:
309:. 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
250:, and the three became the first interns of the Hôpitaux de Paris to be awarded scholarships for the US. At Harvard, one of the tasks of her internship was to be trained as a
739:'The history of cytogenetics – Portraits of some pioneers' S. Gilgenkrantz, E.M. Rivera, University of Nancy (France) & Michigan State University (USA),
612:
313:
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
305:
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
344:
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
195:
288:
origin of trisomy but there was no laboratory for cell culture in France and the number of human chromosomes was estimated at 48, but without any certainty.
660:
911:
426:
375:, and to receive the grand prize of the French Federation of Human Genetics. The Jérôme Lejeune Foundation obtained authorisation from the Bordeaux
209:
in pediatric cardiology under the direction of Robert Debré. Her thesis focused on the study of clinical and anatomical pathology of fatal forms of
693:
441:
181:; 10 September 1925 – 30 April 2022) was a French medical doctor and researcher, best known for her role in discovering the link of diseases to
371:
On 31 January 2014, Gautier was due to speak about her role in the discovery at the seventh biennial congress on human and medical genetics in
790:
674:
634:
355:
The Turpin team identified the first translocation and the first chromosomal deletion, resulting in publications Gautier co-signed.
258:. Besides the two objectives that had been set initially, Gautier was also working part-time as a cell culture technician to obtain
533:
620:
850:
891:
269:
in Paris had been given to a colleague during her absence. However, she learned that there was a position available at the
896:
510:"The history of cytogenetics Portraits of some pioneers" S. Gilgenkrantz & E.M. Rivera, 2003 in "Annales de génétique"
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395:
270:
132:
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After a year in Boston, Gautier returned to Paris. Meanwhile, her job in the pediatric cardiology service at the
825:
182:
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232:
468:
Gautier, Marthe; Harper, Peter S. (2009). "Fiftieth anniversary of trisomy 21: returning to a discovery".
376:
228:
251:
57:
886:
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545:
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224:
223:, in charge of pediatrics in France at the time, offered Gautier a scholarship for one year at
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325:
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388:
329:
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Turpin's research was focused on polymalformative syndromes, of which the most common is
220:
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214:
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with cortisone; the second was to create a department for diagnosis and surgery of
284:
and morphological abnormalities. At the time, Turpin favored the hypothesis of a
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321:
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199:
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198:" and spent the next four years as an intern gaining clinical experience in
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831:(in French). Journal officiel de la République française. 20 April 2014
306:
277:
128:
408:
239:
206:
139:
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Comptes Rendus Hebdomadaires des Séances de l'Académie des Sciences
534:"After More Than 50 Years, a Dispute Over Down Syndrome Discovery"
851:"Journal officiel électronique authentifié n° 0265 du 16/11/2018"
694:"Fiftieth anniversary of the trisomy 21: return on a discovery"
442:"Harvard Medical School and School of Dental Medicine, 1956-57"
704:(3). Med Sci (Paris) Volume 25, Numéro 3, Mars 2009: 311–316.
675:"Trisomie 21 : la Fondation Lejeune menace par huissiers"
588:
Lejeune, Jérôme; Gauthier, Marthe; Turpin, Raymond (1959).
387:
Marthe Gautier was appointed to the rank of Officer of the
754:"Down's syndrome discovery dispute resurfaces in France"
427:
Décès de Marthe Gautier, découvreuse de la trisomie 21
262:
cultures of fibroblast starting from aorta fragments.
320:
In order to count the chromosomes, Gautier worked on
463:
461:
459:
151:
138:
123:
115:
100:
92:
84:
76:
64:
39:
23:
789:
826:"Présidence de la République PROMOTION DE PÂQUES"
561:
559:
519:J.-H. Tjio et A. Levan, Hereditas, 42, 1, 1956.
590:"Les chromosomes humains en culture de tissus"
747:
745:
527:
525:
8:
855:Journal officiel de la République française
907:Commanders of the Ordre national du Mérite
613:"La découvreuse oubliée de la trisomie 21"
31:
20:
765:
709:
419:
205:In 1955 she submitted and defended her
752:Casassus, Barbara (11 February 2014).
659:: CS1 maint: archived copy as title (
652:
104:Role in the discovery of Down syndrome
791:"Who really decoded Down's syndrome?"
611:Gautier, Marthe (30 September 2009).
394:She was promoted to Commander of the
176:
7:
532:Pain, Elisabeth (11 February 2014).
352:misspelled) and Turpin last author.
328:, which were easier to obtain under
238:In September 1955, Gautier left for
317:cell culture laboratory in France.
14:
568:"La découverte de la trisomie 21"
235:for newborns and young children.
912:Officers of the Legion of Honour
213:(rheumatic endocarditis) due to
692:Gautier, Marthe (March 2009).
1:
812:"Thursday 25 september, 2014"
566:Le Méné, Jean-Marie (2009).
359:Attribution of the discovery
273:, in Raymond Turpin's team.
16:French physician (1925–2022)
377:Tribunal de Grande Instance
246:and Jacques Couvreur, both
928:
767:10.1038/nature.2014.14690
711:10.1051/medsci/2009253311
619:(434): 57. Archived from
482:10.1007/s00439-009-0690-1
301:In 1956, biologists from
242:. She was accompanied by
233:congenital heart diseases
163:
108:
30:
183:chromosome abnormalities
396:National Order of Merit
340:Announcement of results
297:Laboratory cell culture
282:intellectual disability
389:French Legion of Honor
229:cardiovascular disease
892:Chemical pathologists
398:on 15 November 2018.
252:laboratory technician
174:French pronunciation:
897:French pediatricians
814:. 25 September 2014.
444:. Harvard University
119:Pediatric cardiology
902:Women pediatricians
641:on 6 September 2014
623:on 2 February 2014.
550:2014Sci...343..720P
280:, characterized by
178:[maʁtɡotje]
127:Hôpitaux de Paris,
681:. 3 February 2014.
271:Trousseau Hospital
248:Fulbright scholars
225:Harvard University
698:Médecine/Sciences
326:connective tissue
196:hôpitaux de Paris
167:
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133:Hôpital Trousseau
110:Scientific career
88:Hôpitaux de Paris
50:10 September 1925
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330:local anesthesia
267:Bicêtre Hospital
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153:Doctoral advisor
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21:
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800:. 5 April 2014.
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635:"Archived copy"
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311:tissue staining
303:Lund University
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211:rheumatic fever
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85:Alma mater
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26:
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476:(2): 317–324.
470:Human Genetics
455:
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402:Medical career
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346:Jérôme Lejeune
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101:Known for
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72:(aged 96)
66:
62:
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52:
41:
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28:
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25:Marthe Gautier
24:
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10:
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600:(1): 602–603.
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544:(6172): 720.
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292:Down syndrome
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859:. Retrieved
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643:. Retrieved
639:the original
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621:the original
617:La Recherche
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571:. Retrieved
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446:. Retrieved
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256:cell culture
244:Jean Aicardi
237:
221:Robert Debré
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169:
168:
158:Robert Debré
124:Institutions
109:
70:(2022-04-30)
18:
887:2022 deaths
882:1925 births
857:(in French)
645:6 September
538:Science Now
430:(in French)
322:fibroblasts
286:chromosomal
254:working in
217:infection.
77:Nationality
876:Categories
861:5 November
835:5 November
679:Libération
573:9 February
415:References
200:pediatrics
93:Occupation
46:1925-09-10
490:0340-6717
189:Education
54:Montenils
776:75454283
720:19361398
655:cite web
498:30299551
373:Bordeaux
315:in vitro
260:in-vitro
546:Bibcode
448:1 March
307:trisomy
278:trisomy
129:Harvard
774:
758:Nature
725:17 May
718:
496:
488:
409:INSERM
240:Boston
207:thesis
146:(1955)
144:
140:Thesis
116:Fields
80:French
58:France
829:(PDF)
772:S2CID
494:S2CID
863:2021
837:2021
727:2014
716:PMID
661:link
647:2014
575:2014
486:ISSN
450:2014
65:Died
40:Born
762:doi
706:doi
598:248
542:343
478:doi
474:126
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Text is available under the Creative Commons Attribution-ShareAlike License. Additional terms may apply.
