TERMIUM Plus®
The Government of Canada’s terminology and linguistic data bank.
TRISOMY [19 records]
Record 1 - internal organization data 2019-07-31
Record 1, English
Record 1, Subject field(s)
- Non-Gov. Provincial Bodies and Committees (Canadian)
- Genetics
- Human Diseases - Various
Record 1, Main entry term, English
- Regroupement pour la Trisomie 21
1, record 1, English, Regroupement%20pour%20la%20Trisomie%C2%A021
correct, Quebec
Record 1, Abbreviations, English
- RT21 2, record 1, English, RT21
correct, Quebec
Record 1, Synonyms, English
- Association de parents d'enfants trisomiques du Montréal métropolitain inc. 3, record 1, English, Association%20de%20parents%20d%27enfants%20trisomiques%20du%20Montr%C3%A9al%20m%C3%A9tropolitain%20inc%2E
former designation, correct, Quebec
Record 1, Textual support, English
Record number: 1, Textual support number: 1 OBS
Regroupement pour la Trisomie 21(RT21) is a registered charity based in Montréal [that serves] hundreds of families in the province of Quebec. Its mission is to foster the full development of people with trisomy 21, promote their contribution [in society, defend their rights and provide help to] families, caregivers and professionals who support [people with trisomy 21]. 4, record 1, English, - Regroupement%20pour%20la%20Trisomie%C2%A021
Record number: 1, Textual support number: 2 OBS
Regroupement pour la Trisomie 21 (RT21) was originally founded in 1986 under the name Association de parents d’enfants trisomiques du Montréal métropolitain inc. 5, record 1, English, - Regroupement%20pour%20la%20Trisomie%C2%A021
Record 1, Key term(s)
- Association de parents d'enfants trisomiques du Montréal métropolitain
Record 1, French
Record 1, Domaine(s)
- Organismes et comités provinciaux non gouv. canadiens
- Génétique
- Maladies humaines diverses
Record 1, Main entry term, French
- Regroupement pour la Trisomie 21
1, record 1, French, Regroupement%20pour%20la%20Trisomie%C2%A021
correct, masculine noun, Quebec
Record 1, Abbreviations, French
- RT21 2, record 1, French, RT21
correct, masculine noun, Quebec
Record 1, Synonyms, French
- Association de parents d'enfants trisomiques du Montréal métropolitain inc. 3, record 1, French, Association%20de%20parents%20d%27enfants%20trisomiques%20du%20Montr%C3%A9al%20m%C3%A9tropolitain%20inc%2E
former designation, correct, feminine noun, Quebec
Record 1, Textual support, French
Record number: 1, Textual support number: 1 OBS
Organisme sans but lucratif, le Regroupement pour la Trisomie 21 (RT21) offre de l'information, des services, des activités et de l'accompagnement aux parents, aux personnes ayant une trisomie 21 et à leurs proches. 3, record 1, French, - Regroupement%20pour%20la%20Trisomie%C2%A021
Record number: 1, Textual support number: 2 OBS
Mission. [Le Regroupement pour la Trisomie 21 vise à] favoriser le plein développement des personnes ayant une trisomie 21, promouvoir leur contribution au sein de la société et défendre leurs droits. [Il vise aussi à] soutenir les familles, les proches aidants et les professionnels qui les entourent. 4, record 1, French, - Regroupement%20pour%20la%20Trisomie%C2%A021
Record number: 1, Textual support number: 3 OBS
Le Regroupement pour la Trisomie 21 [a vu] le jour en 1986 sous le nom de l'Association de parents d'enfants trisomiques du Montréal métropolitain inc. 3, record 1, French, - Regroupement%20pour%20la%20Trisomie%C2%A021
Record 1, Key term(s)
- Association de parents d'enfants trisomiques du Montréal métropolitain
Record 1, Spanish
Record 1, Textual support, Spanish
Record 2 - internal organization data 2017-07-18
Record 2, English
Record 2, Subject field(s)
- National Bodies and Committees (Canadian)
- Human Diseases
Record 2, Main entry term, English
- Support Organization for Trisomy 18, 13 & Related Disorders
1, record 2, English, Support%20Organization%20for%20Trisomy%2018%2C%2013%20%26%20Related%20Disorders
correct
Record 2, Abbreviations, English
- SOFT 2, record 2, English, SOFT
correct
Record 2, Synonyms, English
- Support Organization for Trisomy 18, Trisomy 13 2, record 2, English, Support%20Organization%20for%20Trisomy%2018%2C%20Trisomy%2013
correct
Record 2, Textual support, English
Record number: 2, Textual support number: 1 OBS
SOFT is a self-funded... non-profit, volunteer organization incorporated in 1980. SOFT has helped families for over three decades and is recognized as a primary source of information about trisomy 18, 13 and related disorders. 3, record 2, English, - Support%20Organization%20for%20Trisomy%2018%2C%2013%20%26%20Related%20Disorders
Record number: 2, Textual support number: 2 OBS
SOFT is a network of families and professionals dedicated to providing support and understanding to families involved in the issues and decisions surrounding the diagnosis and care in Trisomy 18, 13 and other related chromosomal disorders. Support can be provided during prenatal diagnosis, the child's life and after the child's passing. SOFT is committed to respect a family's personal decision and to the notion of parent-professional relationships. 4, record 2, English, - Support%20Organization%20for%20Trisomy%2018%2C%2013%20%26%20Related%20Disorders
Record 2, French
Record 2, Domaine(s)
- Organismes et comités nationaux canadiens
- Maladies humaines
Record 2, Main entry term, French
- Support Organization for Trisomy 18, 13 & Related Disorders
1, record 2, French, Support%20Organization%20for%20Trisomy%2018%2C%2013%20%26%20Related%20Disorders
correct
Record 2, Abbreviations, French
- SOFT 2, record 2, French, SOFT
correct
Record 2, Synonyms, French
- Support Organization for Trisomy 18, Trisomy 13 2, record 2, French, Support%20Organization%20for%20Trisomy%2018%2C%20Trisomy%2013
correct
Record 2, Textual support, French
Record 2, Spanish
Record 2, Textual support, Spanish
Record 3 - internal organization data 2017-05-12
Record 3, English
Record 3, Subject field(s)
- Genetics
Record 3, Main entry term, English
- hypotelorism 1, record 3, English, hypotelorism
Record 3, Abbreviations, English
Record 3, Synonyms, English
Record 3, Textual support, English
Record number: 3, Textual support number: 1 DEF
Abnormally decreased distance between two organs or parts. 1, record 3, English, - hypotelorism
Record number: 3, Textual support number: 1 CONT
(13 Trisomy syndrome) Abnormalities found in less than 50% of patients. Eyes : Shallow supraorbital ridges, slanting palpebral fissures, absent eyebrows, hypotelorism, hypertelorism, anophthalmos. 1, record 3, English, - hypotelorism
Record number: 3, Textual support number: 1 OBS
The word seems to be used in a more general context. Indeed the word "ocular (or orbital) hypotelorism" is used to describe the abnormal decrease in the intraorbital distance, which is consistently present in trigonocephaly. 1, record 3, English, - hypotelorism
Record 3, French
Record 3, Domaine(s)
- Génétique
Record 3, Main entry term, French
- hypotélorisme
1, record 3, French, hypot%C3%A9lorisme
masculine noun
Record 3, Abbreviations, French
Record 3, Synonyms, French
Record 3, Textual support, French
Record number: 3, Textual support number: 1 DEF
Malformation entraînant une diminution de l'espace inter-oculaire. 1, record 3, French, - hypot%C3%A9lorisme
Record number: 3, Textual support number: 1 CONT
[...] il doit exister la longueur d'un œil entre les deux yeux. Il y a hypertélorisme ou hypotélorisme si l'écart intercaronculaire interne est supérieur ou inférieur à la normale. 1, record 3, French, - hypot%C3%A9lorisme
Record number: 3, Textual support number: 1 OBS
Le mot se rapporte uniquement à une malformation crânio-faciale causant un rapprochement anormal des yeux. 1, record 3, French, - hypot%C3%A9lorisme
Record 3, Spanish
Record 3, Textual support, Spanish
Record 4 - internal organization data 2017-04-26
Record 4, English
Record 4, Subject field(s)
- Genetics
Universal entry(ies) Record 4
Record 4, Main entry term, English
- Franceschetti's disease 1, record 4, English, Franceschetti%27s%20disease
Record 4, Abbreviations, English
Record 4, Synonyms, English
Record 4, Textual support, English
Record number: 4, Textual support number: 1 DEF
The complete form of a hereditary disorder which is called mandibulofacial dysostosis. The Franceschetti syndrome is characterized by antimongoloid slant of the palpebral fissures, coloboma of the lower lid, micrognathia and hypoplasia of the zygomatic arches, and microtia. It is transmitted as an autosomal dominant trait. 1, record 4, English, - Franceschetti%27s%20disease
Record number: 4, Textual support number: 1 CONT
(Trisomy 18) Finally, the small lower jaw gives a receding chin suggestive of Franceschetti's disease. 1, record 4, English, - Franceschetti%27s%20disease
Record 4, French
Record 4, Domaine(s)
- Génétique
Entrée(s) universelle(s) Record 4
Record 4, Main entry term, French
- maladie de Franceschetti
1, record 4, French, maladie%20de%20Franceschetti
feminine noun
Record 4, Abbreviations, French
Record 4, Synonyms, French
- fundus flavimaculatus de Franceschetti et François 1, record 4, French, fundus%20flavimaculatus%20de%20Franceschetti%20et%20Fran%C3%A7ois
Record 4, Textual support, French
Record number: 4, Textual support number: 1 DEF
Affection du fond d'œil se caractérisant par la présence, au niveau ou autour du pôle postérieur (parfois à la périphérie), de taches jaunes situées dans les couches profondes de la rétine, disséminées ou groupées en grappe, de forme variable (arrondie, allongée, ou étoilée). 1, record 4, French, - maladie%20de%20Franceschetti
Record number: 4, Textual support number: 1 CONT
(Trisomie 18) Enfin, la mâchoire inférieure est petite, le menton nettement en retrait sur le massif facial donnant un aspect pouvant rappeler la maladie de Franceschetti. 1, record 4, French, - maladie%20de%20Franceschetti
Record 4, Spanish
Record 4, Textual support, Spanish
Record 5 - internal organization data 2015-04-13
Record 5, English
Record 5, Subject field(s)
- Titles of Provincial Government Programs (Canadian)
- Genetics
- Pregnancy
Record 5, Main entry term, English
- Trisomy 21 Prenatal Screening Program
1, record 5, English, Trisomy%2021%20Prenatal%20Screening%20Program
correct, Quebec
Record 5, Abbreviations, English
Record 5, Synonyms, English
Record 5, Textual support, English
Record number: 5, Textual support number: 1 OBS
The Trisomy 21 Prenatal Screening Program of Quebec provides pregnant women and couples across Quebec with access to a trisomy 21 prenatal screening test. The test is covered under Quebec' s health insurance plan. 1, record 5, English, - Trisomy%2021%20Prenatal%20Screening%20Program
Record 5, French
Record 5, Domaine(s)
- Titres de programmes de gouvernements provinciaux canadiens
- Génétique
- Grossesse
Record 5, Main entry term, French
- Programme québécois de dépistage prénatal de la trisomie 21
1, record 5, French, Programme%20qu%C3%A9b%C3%A9cois%20de%20d%C3%A9pistage%20pr%C3%A9natal%20de%20la%20trisomie%2021
correct, masculine noun
Record 5, Abbreviations, French
Record 5, Synonyms, French
Record 5, Textual support, French
Record number: 5, Textual support number: 1 OBS
Le Programme québécois de dépistage prénatal de la trisomie 21 permet aux femmes enceintes et aux couples du Québec d’avoir accès à un test de dépistage prénatal de la trisomie 21. Ce test est couvert par le régime d’assurance maladie du Québec. 1, record 5, French, - Programme%20qu%C3%A9b%C3%A9cois%20de%20d%C3%A9pistage%20pr%C3%A9natal%20de%20la%20trisomie%2021
Record 5, Spanish
Record 5, Textual support, Spanish
Record 6 - internal organization data 2011-03-22
Record 6, English
Record 6, Subject field(s)
- Genetics
Record 6, Main entry term, English
- turtle-like upper lip 1, record 6, English, turtle%2Dlike%20upper%20lip
Record 6, Abbreviations, English
Record 6, Synonyms, English
Record 6, Textual support, English
Record number: 6, Textual support number: 1 DEF
Mouth, the lower lip of which is straight and the upper lip of which stands at an acute angle so that the mouth seems to be triangular. 1, record 6, English, - turtle%2Dlike%20upper%20lip
Record number: 6, Textual support number: 1 CONT
(Trisomy 10p) The triangularly shaped mouth with a "turtle-like" upper lip observed in case 1, is a sign to have in mind for further patients. 1, record 6, English, - turtle%2Dlike%20upper%20lip
Record 6, French
Record 6, Domaine(s)
- Génétique
Record 6, Main entry term, French
- bouche en tortue
1, record 6, French, bouche%20en%20tortue
feminine noun
Record 6, Abbreviations, French
Record 6, Synonyms, French
Record 6, Textual support, French
Record number: 6, Textual support number: 1 DEF
Bouche dont la lèvre inférieure est droite, et la lèvre supérieure réalise un angle aigu de telle façon que la bouche apparaît triangulaire. 1, record 6, French, - bouche%20en%20tortue
Record number: 6, Textual support number: 1 CONT
(Deux cas de trisomie 10p partielle) Malgré cette divergence cytologique, il existe, chez les patients, un ensemble morbide commun associant : une dysmorphie crânio-faciale : trop grand développement de la loge antérieure du crâne par rapport à la face : front haut, bombé et recouvert de duvet; ensellure nasale saillante; implantation basse des oreilles; bouche triangulaire «en tortue». 1, record 6, French, - bouche%20en%20tortue
Record 6, Spanish
Record 6, Textual support, Spanish
Record 7 - internal organization data 2011-03-17
Record 7, English
Record 7, Subject field(s)
- Genetics
Record 7, Main entry term, English
- trisomy 21 mosaicism 1, record 7, English, trisomy%2021%20mosaicism
Record 7, Abbreviations, English
Record 7, Synonyms, English
- Down's syndrome mosaicism 1, record 7, English, Down%27s%20syndrome%20mosaicism
Record 7, Textual support, English
Record number: 7, Textual support number: 1 DEF
The condition of having two different cell populations, one trisomic for chromosome 21 and another normal; mosaicism constitutes about 2 - 3% of patients with Down’s syndrome. 1, record 7, English, - trisomy%2021%20mosaicism
Record number: 7, Textual support number: 1 CONT
Individuals having trisomy 21 mosaicism may vary in phenotype from typical trisomy 21 to normal. 1, record 7, English, - trisomy%2021%20mosaicism
Record 7, Key term(s)
- trisomy twenty-one mosaicism
Record 7, French
Record 7, Domaine(s)
- Génétique
Record 7, Main entry term, French
- mongolisme-mosaïcisme
1, record 7, French, mongolisme%2Dmosa%C3%AFcisme
masculine noun
Record 7, Abbreviations, French
Record 7, Synonyms, French
Record 7, Textual support, French
Record number: 7, Textual support number: 1 DEF
Fait d'avoir deux lignées cellulaires différentes, une trisomique pour le chromosome 21 et une autre normale; les mosaïques représentent 2 à 3% des cas de trisomie 21. 1, record 7, French, - mongolisme%2Dmosa%C3%AFcisme
Record number: 7, Textual support number: 1 CONT
(Le syndrome de Down) L'étude détaillée des crêtes digitales, palmaires et plantaires, pourra fournir des renseignements précieux surtout en cas de mongolisme-mosaïcisme. 1, record 7, French, - mongolisme%2Dmosa%C3%AFcisme
Record 7, Spanish
Record 7, Textual support, Spanish
Record 8 - internal organization data 2010-11-23
Record 8, English
Record 8, Subject field(s)
- Genetics
Record 8, Main entry term, English
- double trisomy 1, record 8, English, double%20trisomy
Record 8, Abbreviations, English
Record 8, Synonyms, English
Record 8, Textual support, English
Record number: 8, Textual support number: 1 DEF
State of a cell or an individual who possesses three chromosomes instead of two for two given pairs of chromosomes. 1, record 8, English, - double%20trisomy
Record number: 8, Textual support number: 1 CONT
The most common form of double trisomy is a combination of the triplo-X or XXY condition with 18-trisomy(48, XXX or XXY, 18+). 1, record 8, English, - double%20trisomy
Record 8, French
Record 8, Domaine(s)
- Génétique
Record 8, Main entry term, French
- trisomie double
1, record 8, French, trisomie%20double
feminine noun
Record 8, Abbreviations, French
Record 8, Synonyms, French
Record 8, Textual support, French
Record number: 8, Textual support number: 1 DEF
État d'une cellule ou d'un individu qui possède trois chromosomes au lieu de deux, pour deux paires déterminées de chromosomes. 1, record 8, French, - trisomie%20double
Record number: 8, Textual support number: 1 CONT
Dans les avortements, par la fréquence des trisomies autosomiques, c'est la double trisomie: 48 chromosomes (46 autosomes + 2 gonosomes) qui est rencontrée le plus souvent. 1, record 8, French, - trisomie%20double
Record 8, Spanish
Record 8, Campo(s) temático(s)
- Genética
Record 8, Main entry term, Spanish
- doble trisomía
1, record 8, Spanish, doble%20trisom%C3%ADa
correct, feminine noun
Record 8, Abbreviations, Spanish
Record 8, Synonyms, Spanish
Record 8, Textual support, Spanish
Record number: 8, Textual support number: 1 DEF
Presencia de dos cromosomas adicionales, uno de los cuales se encuentra agregado en una determinada disomía cromosómica y el segundo en relación con otra. 1, record 8, Spanish, - doble%20trisom%C3%ADa
Record number: 8, Textual support number: 1 OBS
Un ejemplo de esto sería un cariotipo 48xx+18+21 el cual indica que el número total de cromosomas es de 48 de los cuales existen 2 gonosomas “x” y 2 autosomas número 18, además de los dos autosomas número 18 normalmente presentes. 1, record 8, Spanish, - doble%20trisom%C3%ADa
Record 9 - internal organization data 2010-10-26
Record 9, English
Record 9, Subject field(s)
- Genetics
Record 9, Main entry term, English
- partial trisomy 1, record 9, English, partial%20trisomy
Record 9, Abbreviations, English
Record 9, Synonyms, English
Record 9, Textual support, English
Record number: 9, Textual support number: 1 CONT
Partial and mosaic trisomies are part of incomplete trisomies. As for partial trisomies, the element in excess is an incomplete chromosome which has lost part of its genetic material. [translation] The possibility of the presence of other cytogenetic abnormalities such as pericentric and paracentric inversions, undetermined mosaicism, deletion or duplication of a small unattached segment of another chromosome, translocation, and others makes it unwise to call these cases or others similar to them "partial trisomy" or "antimongoloid", trying to create a heterogeneous syndrome based on very few phenotypic characteristics they may share. 1, record 9, English, - partial%20trisomy
Record 9, French
Record 9, Domaine(s)
- Génétique
Record 9, Main entry term, French
- trisomie partielle
1, record 9, French, trisomie%20partielle
feminine noun
Record 9, Abbreviations, French
Record 9, Synonyms, French
Record 9, Textual support, French
Record number: 9, Textual support number: 1 CONT
Les trisomies partielles et les trisomies mosaïques font partie des trisomies incomplètes. En ce qui concerne les trisomies partielles, «l'élément en excès est un chromosome incomplet qui a perdu une partie de son matériel génétique». 1, record 9, French, - trisomie%20partielle
Record number: 9, Textual support number: 2 CONT
(Chromosome 3) Du point de vue clinique, il n'existe pas de syndrome important. Seules peuvent être retenues la trisomie partielle et la duplication-délétion. 1, record 9, French, - trisomie%20partielle
Record 9, Spanish
Record 9, Campo(s) temático(s)
- Genética
Record 9, Main entry term, Spanish
- trisomía parcial
1, record 9, Spanish, trisom%C3%ADa%20parcial
correct, feminine noun
Record 9, Abbreviations, Spanish
Record 9, Synonyms, Spanish
Record 9, Textual support, Spanish
Record number: 9, Textual support number: 1 DEF
Presencia de una copia adicional de parte de un cromosoma. 1, record 9, Spanish, - trisom%C3%ADa%20parcial
Record 10 - internal organization data 2007-12-22
Record 10, English
Record 10, Subject field(s)
- Genetics
Record 10, Main entry term, English
- triploidy
1, record 10, English, triploidy
correct
Record 10, Abbreviations, English
Record 10, Synonyms, English
Record 10, Textual support, English
Record number: 10, Textual support number: 1 DEF
The state of having three haploid sets of chromosomes in each nucleus. 2, record 10, English, - triploidy
Record number: 10, Textual support number: 1 CONT
The most frequent type of abnormality is trisomy, followed by triploidy. 2, record 10, English, - triploidy
Record 10, French
Record 10, Domaine(s)
- Génétique
Record 10, Main entry term, French
- triploïdie
1, record 10, French, triplo%C3%AFdie
correct, feminine noun
Record 10, Abbreviations, French
Record 10, Synonyms, French
Record 10, Textual support, French
Record number: 10, Textual support number: 1 DEF
Type de polyploïdie caractérisée par la présence de trois génomes de base dans les noyaux des cellules, ceux-ci pouvant être homologues ou non. 2, record 10, French, - triplo%C3%AFdie
Record 10, Spanish
Record 10, Campo(s) temático(s)
- Genética
Record 10, Main entry term, Spanish
- triploidía
1, record 10, Spanish, triploid%C3%ADa
correct, feminine noun
Record 10, Abbreviations, Spanish
Record 10, Synonyms, Spanish
Record 10, Textual support, Spanish
Record number: 10, Textual support number: 1 DEF
Estado o alteración de tener tres grupos completos de cromosomas. 2, record 10, Spanish, - triploid%C3%ADa
Record 11 - internal organization data 2006-01-24
Record 11, English
Record 11, Subject field(s)
- Human Diseases - Various
- Genetics
Record 11, Main entry term, English
- Down syndrome
1, record 11, English, Down%20syndrome
correct
Record 11, Abbreviations, English
Record 11, Synonyms, English
- trisomy 21 syndrome 2, record 11, English, trisomy%2021%20syndrome
correct
- mongolism 3, record 11, English, mongolism
avoid, obsolete, pejorative
- mongolian idiocy 4, record 11, English, mongolian%20idiocy
avoid, obsolete, pejorative
- Kalmuc idiocy 4, record 11, English, Kalmuc%20idiocy
avoid, obsolete, pejorative
Record 11, Textual support, English
Record number: 11, 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 11, English, - Down%20syndrome
Record number: 11, Textual support number: 1 OBS
... Down’s Syndrome ... used to be called "mongolism", "mongolism idiocy", or "Kalmuc idiocy." 4, record 11, English, - Down%20syndrome
Record 11, Key term(s)
- Down's syndrome
Record 11, French
Record 11, Domaine(s)
- Maladies humaines diverses
- Génétique
Record 11, Main entry term, French
- syndrome de Down
1, record 11, French, syndrome%20de%20Down
correct, masculine noun
Record 11, Abbreviations, French
Record 11, Synonyms, French
- trisomie 21 1, record 11, French, trisomie%2021
feminine noun
- mongolisme 1, record 11, French, mongolisme
avoid, masculine noun, obsolete, pejorative
- idiotie mongolienne 2, record 11, French, idiotie%20mongolienne
avoid, feminine noun, obsolete, pejorative
Record 11, Textual support, French
Record number: 11, 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 11, French, - syndrome%20de%20Down
Record number: 11, 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 11, French, - syndrome%20de%20Down
Record 11, Spanish
Record 11, Campo(s) temático(s)
- Enfermedades humanas varias
- Genética
Record 11, Main entry term, Spanish
- síndrome de Down
1, record 11, Spanish, s%C3%ADndrome%20de%20Down
correct, masculine noun
Record 11, Abbreviations, Spanish
Record 11, Synonyms, Spanish
- trisomía 21 2, record 11, Spanish, trisom%C3%ADa%2021
correct, feminine noun
- trisomía del cromosoma 21 3, record 11, Spanish, trisom%C3%ADa%20del%20cromosoma%2021
feminine noun
Record 11, Textual support, Spanish
Record number: 11, Textual support number: 1 DEF
Desorden congénito provocado por la presencia de un tercer cromosoma 21 y caracterizado por diversos rasgos corporales. 4, record 11, Spanish, - s%C3%ADndrome%20de%20Down
Record 12 - internal organization data 2005-09-08
Record 12, English
Record 12, Subject field(s)
- Diagnostic Procedures (Medicine)
- Pregnancy
- Biochemistry
Record 12, Main entry term, English
- triple marker screening
1, record 12, English, triple%20marker%20screening
correct
Record 12, Abbreviations, English
Record 12, Synonyms, English
- triple screening 2, record 12, English, triple%20screening
correct
- expanded alpha-fetoprotein screening 3, record 12, English, expanded%20alpha%2Dfetoprotein%20screening
correct
- expanded AFP screening 1, record 12, English, expanded%20AFP%20screening
correct
- alpha-fetoprotein triple screening 4, record 12, English, alpha%2Dfetoprotein%20triple%20screening
correct
- AFP-triple screening 4, record 12, English, AFP%2Dtriple%20screening
correct
Record 12, Textual support, English
Record number: 12, Textual support number: 1 CONT
Very high or low amounts of AFP [alpha-fetoprotein] in the mother's circulation have been associated with specific fetal abnormalities. If two other substances are measured along with AFP, the detection rate of the abnormalities is increased. The AFP-Triple Screen test measures the amount of three substances(AFP, estriol, and human chorionic gonadotropin) in the blood of pregnant women to detect pregnancies that have a higher risk for fetal abnormalities, as well as Trisomy 21 and Trisomy 18. 4, record 12, English, - triple%20marker%20screening
Record 12, Key term(s)
- expanded alphafetoprotein screening
- expanded alpha fetoprotein screening
Record 12, French
Record 12, Domaine(s)
- Méthodes diagnostiques (Médecine)
- Grossesse
- Biochimie
Record 12, Main entry term, French
- dépistage par dosage des trois marqueurs sériques
1, record 12, French, d%C3%A9pistage%20par%20dosage%20des%20trois%20marqueurs%20s%C3%A9riques
correct, masculine noun
Record 12, Abbreviations, French
Record 12, Synonyms, French
- dépistage par dosage des trois marqueurs 1, record 12, French, d%C3%A9pistage%20par%20dosage%20des%20trois%20marqueurs
correct, masculine noun
- dépistage par analyse des trois marqueurs sériques 1, record 12, French, d%C3%A9pistage%20par%20analyse%20des%20trois%20marqueurs%20s%C3%A9riques
correct, masculine noun
- dépistage par analyse des trois marqueurs 1, record 12, French, d%C3%A9pistage%20par%20analyse%20des%20trois%20marqueurs
correct, masculine noun
Record 12, Textual support, French
Record number: 12, Textual support number: 1 OBS
Dosage de trois marqueurs sériques maternels, soit l'alpha-foetoprotéine, la gonadotrophine chorionique humaine et l'oestriol non conjugué. 2, record 12, French, - d%C3%A9pistage%20par%20dosage%20des%20trois%20marqueurs%20s%C3%A9riques
Record number: 12, Textual support number: 2 OBS
dépistage par dosage des trois marqueurs sériques; dépistage par analyse des trois marqueurs sériques; dépistage par dosage des trois marqueurs; dépistage par analyse des trois marqueurs : termes retenus par le réseau Entraide Traduction Santé. 3, record 12, French, - d%C3%A9pistage%20par%20dosage%20des%20trois%20marqueurs%20s%C3%A9riques
Record 12, Spanish
Record 12, Textual support, Spanish
Record 13 - internal organization data 2003-06-23
Record 13, English
Record 13, Subject field(s)
- Genetics
Record 13, Main entry term, English
- trisomic
1, record 13, English, trisomic
adjective
Record 13, Abbreviations, English
Record 13, Synonyms, English
- trisomal 2, record 13, English, trisomal
adjective
Record 13, Textual support, English
Record number: 13, Textual support number: 1 DEF
Pertaining to or characterized by trisomy. 2, record 13, English, - trisomic
Record number: 13, Textual support number: 1 CONT
(Chromosome mutation) A final series of terms used to describe variation in number is the "nullisomic", "monosomic", "disomic", "trisomic", and "polysomic" series. 2, record 13, English, - trisomic
Record 13, French
Record 13, Domaine(s)
- Génétique
Record 13, Main entry term, French
- trisomique
1, record 13, French, trisomique
adjective
Record 13, Abbreviations, French
Record 13, Synonyms, French
Record 13, Textual support, French
Record number: 13, Textual support number: 1 DEF
Se dit du noyau, de la cellule, de l'organisme, etc. hyperploïde, de formule 2n+1, à cause de la présence d'un chromosome en 3 exemplaires. S'il y a deux, trois, etc. chromosomes présents en trois exemplaires, le noyau est double trisomique, triple trisomique, etc. 2, record 13, French, - trisomique
Record number: 13, Textual support number: 1 CONT
(chromosome 21) Comme pour le 5 et pour le 13, l'identification du chromosome 21 a d'abord été fondée sur la clinique : c'est par définition le chromosome dont la présence à l'état trisomique est responsable du syndrome clinique d'abord décrit sous le nom du mongolisme. 2, record 13, French, - trisomique
Record 13, Spanish
Record 13, Campo(s) temático(s)
- Genética
Record 13, Main entry term, Spanish
- trisómico
1, record 13, Spanish, tris%C3%B3mico
correct, adjective
Record 13, Abbreviations, Spanish
Record 13, Synonyms, Spanish
Record 13, Textual support, Spanish
Record 14 - internal organization data 1998-08-28
Record 14, English
Record 14, Subject field(s)
- Genetics
Record 14, Main entry term, English
- peripheral blood leucocyte
1, record 14, English, peripheral%20blood%20leucocyte
correct
Record 14, Abbreviations, English
Record 14, Synonyms, English
Record 14, Textual support, English
Record number: 14, Textual support number: 1 CONT
An attempt was made to diminish the existing differences between the treated and control groups such as age, nutritional and social conditions, and also the karyogram for those aged less than 3 1/2 years. All corresponded to the standard trisomy, except for one control, who had a mosaic with 12% normal cells in a peripheral blood leukocyte culture. After a few months this child achieved better results than any other in his group. 1, record 14, English, - peripheral%20blood%20leucocyte
Record 14, French
Record 14, Domaine(s)
- Génétique
Record 14, Main entry term, French
- leucocyte du sang périphérique
1, record 14, French, leucocyte%20du%20sang%20p%C3%A9riph%C3%A9rique
proposal, masculine noun
Record 14, Abbreviations, French
Record 14, Synonyms, French
Record 14, Textual support, French
Record 14, Spanish
Record 14, Textual support, Spanish
Record 15 - internal organization data 1992-09-16
Record 15, English
Record 15, Subject field(s)
- Radiography (Medicine)
- Musculoskeletal System
Record 15, Main entry term, English
- twisted ribbon rib
1, record 15, English, twisted%20ribbon%20rib
correct
Record 15, Abbreviations, English
Record 15, Synonyms, English
- ribbon-like rib 2, record 15, English, ribbon%2Dlike%20rib
correct
Record 15, Textual support, English
Record number: 15, Textual support number: 1 DEF
Thinned rib seen in neurofibromatosis and regenerated ribs after resection, and occasionally in Gorham's disease, hyperparathyroidism, Morquio's disease, Melnick-Needless syndrome, osteogenesis imperfecta, paraplegia, polyomyelitis, rheumatoid arthritis, sclerodermia, severe osteoporosis, trisomy 13 syndrome, and trisomy 18 syndrome. 2, record 15, English, - twisted%20ribbon%20rib
Record 15, French
Record 15, Domaine(s)
- Radiographie (Médecine)
- Appareil locomoteur (Médecine)
Record 15, Main entry term, French
- côte torsadée
1, record 15, French, c%C3%B4te%20torsad%C3%A9e
correct, proposal, feminine noun
Record 15, Abbreviations, French
Record 15, Synonyms, French
Record 15, Textual support, French
Record number: 15, Textual support number: 1 DEF
Aspect résultant d'une dysplasie costale : le bord des côtes est ondulé, avec rétrécissements et zones hypoplasiques. S'observe notamment dans la neurofibromatose de von Recklinghausen. 1, record 15, French, - c%C3%B4te%20torsad%C3%A9e
Record 15, Spanish
Record 15, Textual support, Spanish
Record 16 - internal organization data 1989-01-09
Record 16, English
Record 16, Subject field(s)
- Genetics
Record 16, Main entry term, English
- hypoxanthine-guanine phosphoribosyl-transferase
1, record 16, English, hypoxanthine%2Dguanine%20phosphoribosyl%2Dtransferase
correct
Record 16, Abbreviations, English
- HGPRT 1, record 16, English, HGPRT
correct
Record 16, Synonyms, English
Record 16, Textual support, English
Record number: 16, Textual support number: 1 CONT
When the fetus demonstrates a chromosomal defect such as trisomy, or a deficiency for an enzyme such as HGPRT [hypoxanthine-guanine phosphoribosyl-transferase](causing Lesch-Nyhan syndrome)..., the usual practice is to terminate pregnancy, that is, to induce abortion. 1, record 16, English, - hypoxanthine%2Dguanine%20phosphoribosyl%2Dtransferase
Record 16, French
Record 16, Domaine(s)
- Génétique
Record 16, Main entry term, French
- HGPRT
1, record 16, French, HGPRT
correct
Record 16, Abbreviations, French
Record 16, Synonyms, French
Record 16, Textual support, French
Record number: 16, Textual support number: 1 OBS
L'abréviation française est tirée de la base de données PASCAL. 1, record 16, French, - HGPRT
Record 16, Spanish
Record 16, Textual support, Spanish
Record 17 - internal organization data 1985-11-05
Record 17, English
Record 17, Subject field(s)
- Genetics
Record 17, Main entry term, English
- familial
1, record 17, English, familial
correct, adjective
Record 17, Abbreviations, English
Record 17, Synonyms, English
Record 17, Textual support, English
Record number: 17, Textual support number: 1 DEF
The term familial is often used for attributes or disorders of siblings, although father and mother certainly are also members of a family. 1, record 17, English, - familial
Record number: 17, Textual support number: 1 CONT
(Partial trisomy 2q) We report on a family with 3 carriers of a balanced 2/12 translocation in 3 generations and a child with a partial trisomy 2q due to this familial translocation. 1, record 17, English, - familial
Record 17, French
Record 17, Domaine(s)
- Génétique
Record 17, Main entry term, French
- familial
1, record 17, French, familial
correct, adjective
Record 17, Abbreviations, French
Record 17, Synonyms, French
Record 17, Textual support, French
Record number: 17, Textual support number: 1 DEF
Qui atteint plusieurs membres d'une même famille. 1, record 17, French, - familial
Record number: 17, Textual support number: 1 CONT
(Chromosome 18. Anomalies de structure) Dans les cas de translocation familiale, le risque de récurrence de l'anomalie est théoriquement de 1/4, le risque de trisomie partielle également de 1/4, si l'on ne tient pas compte du risque de non-disjonction qui pourrait également se produire 1, record 17, French, - familial
Record 17, Spanish
Record 17, Textual support, Spanish
Record 18 - internal organization data 1981-04-21
Record 18, English
Record 18, Subject field(s)
- The Skin
Record 18, Main entry term, English
- skin furrow 1, record 18, English, skin%20furrow
Record 18, Abbreviations, English
Record 18, Synonyms, English
- cuticular sulci 1, record 18, English, cuticular%20sulci
- sulci cutis 1, record 18, English, sulci%20cutis
Record 18, Textual support, English
Record number: 18, Textual support number: 1 DEF
Grove of the skin; the groves are of variable depth on the surface of the epidermis. 1, record 18, English, - skin%20furrow
Record number: 18, Textual support number: 1 CONT
(Trisomy 8) the soles and palms exhibit deep skin furrows. 1, record 18, English, - skin%20furrow
Record 18, French
Record 18, Domaine(s)
- Appareil cutané
Record 18, Main entry term, French
- pli capitonné
1, record 18, French, pli%20capitonn%C3%A9
masculine noun
Record 18, Abbreviations, French
Record 18, Synonyms, French
- sulci cutis 1, record 18, French, sulci%20cutis
Record 18, Textual support, French
Record number: 18, Textual support number: 1 DEF
Sillon interpapillaire. 1, record 18, French, - pli%20capitonn%C3%A9
Record number: 18, Textual support number: 1 CONT
(Trisomie 18) L'examen des paumes et des soles plantaires confirme l'existence de plis profonds ou «plis capitonnés» surtout chez le nourrisson. 1, record 18, French, - pli%20capitonn%C3%A9
Record 18, Spanish
Record 18, Textual support, Spanish
Record 19 - internal organization data 1981-04-21
Record 19, English
Record 19, Subject field(s)
- Genetics
- Bones and Joints
Record 19, Main entry term, English
- palmature 1, record 19, English, palmature
Record 19, Abbreviations, English
Record 19, Synonyms, English
Record 19, Textual support, English
Record number: 19, Textual support number: 1 DEF
A webbed state of the fingers. 1, record 19, English, - palmature
Record number: 19, Textual support number: 1 CONT
(Main stigmata of trisomy 18) External deformities of the trisomic 18 habitus : syndactyly or palmature of the toes or fingers. 1, record 19, English, - palmature
Record number: 19, Textual support number: 1 OBS
The "Dictionnaire de médecine" (Flammarion) translates the English word "palmature" into "palmure". 1, record 19, English, - palmature
Record 19, French
Record 19, Domaine(s)
- Génétique
- Os et articulations
Record 19, Main entry term, French
- palmature
1, record 19, French, palmature
feminine noun
Record 19, Abbreviations, French
Record 19, Synonyms, French
Record 19, Textual support, French
Record number: 19, Textual support number: 1 DEF
Variété de bride congénitale (bandelette fibreuse tendue en pont entre deux extrémités articulaires) particulièrement développée, et dont l'aspect évoque celui des palmes d'un canard. 1, record 19, French, - palmature
Record number: 19, Textual support number: 1 CONT
(Monosomie 18 p) Palmature des orteils, pieds plats, pieds creux ou pieds en "piolet" ont été signalés exceptionnellement. 1, record 19, French, - palmature
Record 19, Key term(s)
- palmure
Record 19, Spanish
Record 19, Textual support, Spanish
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