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TRISOMIA CROMOSOMA 21 [1 record]
Record 1 - internal organization data 2006-01-24
Record 1, English
Record 1, Subject field(s)
- Human Diseases - Various
- Genetics
Record 1, Main entry term, English
- Down syndrome
1, record 1, English, Down%20syndrome
correct
Record 1, Abbreviations, English
Record 1, Synonyms, English
- trisomy 21 syndrome 2, record 1, English, trisomy%2021%20syndrome
correct
- mongolism 3, record 1, English, mongolism
avoid, obsolete, pejorative
- mongolian idiocy 4, record 1, English, mongolian%20idiocy
avoid, obsolete, pejorative
- Kalmuc idiocy 4, record 1, English, Kalmuc%20idiocy
avoid, obsolete, pejorative
Record 1, Textual support, English
Record number: 1, Textual support number: 1 CONT
In 1866, Down described clinical characteristics of the syndrome that now bears his name. In 1959, Lejeune and Jacobs et al. independently determined that Down syndrome is caused by trisomy 21, Down syndrome is by far the most common and best known chromosome disorder in humans. Mental retardation, dysmorphic facial features, and other distinctive phenotypic traits characterize the syndrome. 5, record 1, English, - Down%20syndrome
Record number: 1, Textual support number: 1 OBS
... Down's Syndrome ... used to be called "mongolism", "mongolism idiocy", or "Kalmuc idiocy." 4, record 1, English, - Down%20syndrome
Record 1, Key term(s)
- Down's syndrome
Record 1, French
Record 1, Domaine(s)
- Maladies humaines diverses
- Génétique
Record 1, Main entry term, French
- syndrome de Down
1, record 1, French, syndrome%20de%20Down
correct, masculine noun
Record 1, Abbreviations, French
Record 1, Synonyms, French
- trisomie 21 1, record 1, French, trisomie%2021
feminine noun
- mongolisme 1, record 1, French, mongolisme
avoid, masculine noun, obsolete, pejorative
- idiotie mongolienne 2, record 1, French, idiotie%20mongolienne
avoid, feminine noun, obsolete, pejorative
Record 1, Textual support, French
Record number: 1, Textual support number: 1 CONT
En 1866, le Docteur Langdon Down, fut le premier à décrire quelques-uns des traits des personnes atteintes [du syndrome qui porte son nom]. Il constata certains traits ressemblants au mongolien (habitant de Mongolie). C'est ainsi que le terme fut introduit dans notre vocabulaire. Puis en 1959, le Docteur Jérôme Lejeune découvrit que le «problème» se situait au niveau de la distribution des chromosomes. Il put vérifier que, sur la 21[e] paire, il y avait un chromosome de plus; c'est ce qui venait débalancer le système cellulaire. C'est pourquoi nous l'appelons aussi trisomie 21. Trisomie pour trois chromosomes et 21 pour la 21[e] paire. 3, record 1, French, - syndrome%20de%20Down
Record number: 1, Textual support number: 1 OBS
Le syndrome de Down ou trisomie 21 est ce qu'on appelait autrefois «mongolisme». Aujourd'hui ce terme est rayé de notre vocabulaire étant donné sa connotation péjorative. 3, record 1, French, - syndrome%20de%20Down
Record 1, Spanish
Record 1, Campo(s) temático(s)
- Enfermedades humanas varias
- Genética
Record 1, Main entry term, Spanish
- síndrome de Down
1, record 1, Spanish, s%C3%ADndrome%20de%20Down
correct, masculine noun
Record 1, Abbreviations, Spanish
Record 1, Synonyms, Spanish
- trisomía 21 2, record 1, Spanish, trisom%C3%ADa%2021
correct, feminine noun
- trisomía del cromosoma 21 3, record 1, Spanish, trisom%C3%ADa%20del%20cromosoma%2021
feminine noun
Record 1, Textual support, Spanish
Record number: 1, Textual support number: 1 DEF
Desorden congénito provocado por la presencia de un tercer cromosoma 21 y caracterizado por diversos rasgos corporales. 4, record 1, Spanish, - s%C3%ADndrome%20de%20Down
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