TERMIUM Plus^®

Record 1,  Textual support,  English

Record number: 1, 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 1, English, - Support%20Organization%20for%20Trisomy%2018%2C%2013%20%26%20Related%20Disorders

Record number: 1, 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 1, English, - Support%20Organization%20for%20Trisomy%2018%2C%2013%20%26%20Related%20Disorders

Record 1,  Textual support,  French

Record 1,  Textual support,  Spanish

Record 2,  Textual support,  English

Record number: 2, 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 2, English, - Trisomy%2021%20Prenatal%20Screening%20Program

Record 2,  Textual support,  French

Record number: 2, 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 2, French, - Programme%20qu%C3%A9b%C3%A9cois%20de%20d%C3%A9pistage%20pr%C3%A9natal%20de%20la%20trisomie%2021

Record 2,  Textual support,  Spanish

Record 3,  Textual support,  English

Record number: 3, Textual support number: 1 DEF

The presence of an additional (third) chromosome of one type in an otherwise diploid cell (2n + 1) ...  2, record 3, English, - trisomy

Record 3,  Textual support,  French

Record number: 3, Textual support number: 1 DEF

Anomalie génétique due à la présence dans une paire chromosomique d'un chromosome surnuméraire.  2, record 3, French, - trisomie

Record 3,  Textual support,  Spanish

Record number: 3, Textual support number: 1 DEF

Presencia de un cromosoma extra de un homólogo en una célula u organismo diploides (fórmula cromosómica: 2n + 1).  2, record 3, Spanish, - trisom%C3%ADa

Record 4,  Textual support,  English

Record number: 4, Textual support number: 1 DEF

A condition characterized by neonatal hepatitis, mental retardation, scaphocephaly, or other skull abnormality, micrognathia, blepharoptosis, low-set ears, corneal opacities, deafness, webbed neck, short digits, ventricular septal defects, Meckel's diverticulum, and other deformities. It is due to the presence of an extra E group chromosome, probably 18.  1, record 4, English, - trisomy%2018

Record 4,  Textual support,  French

Record number: 4, Textual support number: 1 DEF

Syndrome malformatif caractérisé par des anomalies cranio-faciales (sc aphocéphalie, micrognathie, implantation basse des oreilles), des anomalies des extrémités (dermatoglyphes anormaux, doigts en flexion constante, orteils courts, pieds bots), des anomalies viscérales (communication interventriculaire, diverticule de Meckel) et une arriération mentale.  1, record 4, French, - trisomie%2018

Record 4,  Textual support,  Spanish

Record 5,  Textual support,  English

Record number: 5, 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 5, English, - trisomy%2021%20mosaicism

Record number: 5, Textual support number: 1 CONT

Individuals having trisomy 21 mosaicism may vary in phenotype from typical trisomy 21 to normal.  1, record 5, English, - trisomy%2021%20mosaicism

Record 5,  Textual support,  French

Record number: 5, 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 5, French, - mongolisme%2Dmosa%C3%AFcisme

Record number: 5, 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 5, French, - mongolisme%2Dmosa%C3%AFcisme

Record 5,  Textual support,  Spanish

Record 6,  Textual support,  English

Record 6,  Textual support,  French

Record 6,  Textual support,  Spanish

Record number: 6, Textual support number: 1 DEF

Anomalía cromosómica que tiene una frecuencia muy baja mundialmente, su origen es desconocido en donde un individuo o un feto al realizarle estudios cromosómicos va a tener una proporción de células normales y una proporción de células cuya composición cromosómica es anormal (47 cromosomas) debido a la aparición de un cromosoma adicional en el par 9.  2, record 6, Spanish, - trisom%C3%ADa%209%20en%20mosaico

Record 7,  Textual support,  English

Record number: 7, 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 7, English, - double%20trisomy

Record number: 7, 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 7, English, - double%20trisomy

Record 7,  Textual support,  French

Record number: 7, 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 7, French, - trisomie%20double

Record number: 7, 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 7, French, - trisomie%20double

Record 7,  Textual support,  Spanish

Record number: 7, 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 7, Spanish, - doble%20trisom%C3%ADa

Record number: 7, 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 7, Spanish, - doble%20trisom%C3%ADa

Record 8,  Textual support,  English

Record number: 8, 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 8, English, - partial%20trisomy

Record 8,  Textual support,  French

Record number: 8, 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 8, French, - trisomie%20partielle

Record number: 8, 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 8, French, - trisomie%20partielle

Record 8,  Textual support,  Spanish

Record number: 8, Textual support number: 1 DEF

Presencia de una copia adicional de parte de un cromosoma.  1, record 8, Spanish, - trisom%C3%ADa%20parcial

Record 9,  Textual support,  English

Record number: 9, Textual support number: 1 DEF

A chromosomal disorder resulting in a syndrome characterized by specific (midline) dysmorphic features and organ malformations.  2, record 9, English, - trisomy%2013%20syndrome

Record 9,  Textual support,  French

Record 9,  Textual support,  Spanish

Record number: 9, Textual support number: 1 DEF

Enfermedad genética que resulta de la presencia de un cromosoma 13 suplementario.  1, record 9, Spanish, - s%C3%ADndrome%20de%20Patau

Record 10,  Textual support,  English

Record number: 10, 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 10, English, - Down%20syndrome

Record number: 10, Textual support number: 1 OBS

... Down's Syndrome ... used to be called "mongolism", "mongolism idiocy", or "Kalmuc idiocy."  4, record 10, English, - Down%20syndrome

Record 10,  Textual support,  French

Record number: 10, 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 10, French, - syndrome%20de%20Down

Record number: 10, 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 10, French, - syndrome%20de%20Down

Record 10,  Textual support,  Spanish

Record number: 10, Textual support number: 1 DEF

Desorden congénito provocado por la presencia de un tercer cromosoma 21 y caracterizado por diversos rasgos corporales.  4, record 10, Spanish, - s%C3%ADndrome%20de%20Down

Record 11,  Textual support,  French

Record 11,  Textual support,  Spanish

Record 12,  Textual support,  English

Record number: 12, Textual support number: 1 OBS

Organization which is established in Burlington, Ontario.  1, record 12, English, - Support%20Organization%20for%20Trisomy%20Canada

Record 12,  Textual support,  French

Record number: 12, Textual support number: 1 OBS

Organisme établi à Burlington (Ontario).  1, record 12, French, - Support%20Organization%20for%20Trisomy%20Canada

Record 12,  Textual support,  Spanish