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ABERRATION CHROMOSOMIQUE [4 records]
Record 1 - internal organization data 2016-06-28
Record 1, English
Record 1, Subject field(s)
- Human Diseases - Various
- Genetics
Record 1, Main entry term, English
- Turner syndrome
1, record 1, English, Turner%20syndrome
correct
Record 1, Abbreviations, English
- TS 2, record 1, English, TS
correct
Record 1, Synonyms, English
- Turner-Albright syndrome 3, record 1, English, Turner%2DAlbright%20syndrome
correct
- gonadal dysgenesis 4, record 1, English, gonadal%20dysgenesis
see observation
Record 1, Textual support, English
Record number: 1, Textual support number: 1 DEF
A disorder of gonadal differentiation in patients phenotypically female, marked by short stature, undifferentiated (streak) gonads, and variable abnormalities that may include webbing of the neck, low posterior hair line, cubitus valgus, and cardiac defects. 4, record 1, English, - Turner%20syndrome
Record number: 1, Textual support number: 1 OBS
Turner's syndrome is typically associated with absence of the second sex chromosome (XO or 45,X) ... 4, record 1, English, - Turner%20syndrome
Record number: 1, Textual support number: 2 OBS
gonadal dysgenesis: This general term for a defective development of the gonads is sometimes used to refer specifically to Turner syndrome. 5, record 1, English, - Turner%20syndrome
Record 1, Key term(s)
- Turner's syndrome
Record 1, French
Record 1, Domaine(s)
- Maladies humaines diverses
- Génétique
Record 1, Main entry term, French
- syndrome de Turner
1, record 1, French, syndrome%20de%20Turner
correct, masculine noun
Record 1, Abbreviations, French
- ST 2, record 1, French, ST
correct, masculine noun
Record 1, Synonyms, French
- syndrome de Turner-Albright 3, record 1, French, syndrome%20de%20Turner%2DAlbright
correct, masculine noun
Record 1, Textual support, French
Record number: 1, Textual support number: 1 DEF
Aberration chromosomique malformative survenant chez les filles ne portant qu'un seul chromosome X ou un défaut de la formule gonosomique(mosaïque ou délétion) conduisant à une forme de monosomie du X. 4, record 1, French, - syndrome%20de%20Turner
Record 1, Spanish
Record 1, Campo(s) temático(s)
- Enfermedades humanas varias
- Genética
Record 1, Main entry term, Spanish
- síndrome de Turner
1, record 1, Spanish, s%C3%ADndrome%20de%20Turner
correct, masculine noun
Record 1, Abbreviations, Spanish
- ST 1, record 1, Spanish, ST
correct, masculine noun
Record 1, Synonyms, Spanish
Record 1, Textual support, Spanish
Record number: 1, Textual support number: 1 DEF
Trastorno [genético que se presenta en las niñas] que se caracteriza por talla corta, disgenesia gonadal con infantilismo sexual, pterigium colli, disminución del ángulo cubital, implantación baja del cabello y monosomía parcial o total del cromosoma X. 1, record 1, Spanish, - s%C3%ADndrome%20de%20Turner
Record 2 - internal organization data 2003-09-17
Record 2, English
Record 2, Subject field(s)
- Genetics
- Cytology
Record 2, Main entry term, English
- chromosomal aberration
1, record 2, English, chromosomal%20aberration
correct
Record 2, Abbreviations, English
Record 2, Synonyms, English
- chromosomal abnormality 2, record 2, English, chromosomal%20abnormality
correct
- chromosome aberration 3, record 2, English, chromosome%20aberration
correct
Record 2, Textual support, English
Record number: 2, Textual support number: 1 DEF
An irregularity in the number or composition of chromosomes that may alter an embryo's course of development, usually through loss, duplication, exchange, or rearrangement of genetic material. 4, record 2, English, - chromosomal%20aberration
Record number: 2, Textual support number: 1 OBS
Changes that take place in only one chromosome are called intrachromosomal or homosomal. Those involving two or more are interchromosomal or heterosomal. 4, record 2, English, - chromosomal%20aberration
Record 2, French
Record 2, Domaine(s)
- Génétique
- Cytologie
Record 2, Main entry term, French
- aberration chromosomique
1, record 2, French, aberration%20chromosomique
correct, feminine noun
Record 2, Abbreviations, French
Record 2, Synonyms, French
- anomalie chromosomique 2, record 2, French, anomalie%20chromosomique
correct, feminine noun
Record 2, Textual support, French
Record number: 2, Textual support number: 1 DEF
Modification du patrimoine chromosomique survenue pendant la division de la cellule, et source de mutation. Elle peut consister en addition ou soustraction de chromosomes entiers, ou en remaniement de la structure des chromosomes, dont le nombre reste normal : le matériel génétique peut alors être diminué (délétion), augmenté (duplication), modifié dans sa séquence (inversion) ou échangé (translocation). 3, record 2, French, - aberration%20chromosomique
Record 2, Spanish
Record 2, Campo(s) temático(s)
- Genética
- Citología
Record 2, Main entry term, Spanish
- aberración cromosómica
1, record 2, Spanish, aberraci%C3%B3n%20cromos%C3%B3mica
correct, feminine noun
Record 2, Abbreviations, Spanish
Record 2, Synonyms, Spanish
- aberración cromosomal 2, record 2, Spanish, aberraci%C3%B3n%20cromosomal
correct, feminine noun
Record 2, Textual support, Spanish
Record number: 2, Textual support number: 1 DEF
Anomalía en la morfología o en el número de cromosomas de una especie. 1, record 2, Spanish, - aberraci%C3%B3n%20cromos%C3%B3mica
Record 3 - internal organization data 1984-05-30
Record 3, English
Record 3, Subject field(s)
- Genetics
Record 3, Main entry term, English
- gross chromosomal aberration 1, record 3, English, gross%20chromosomal%20aberration
Record 3, Abbreviations, English
Record 3, Synonyms, English
Record 3, Textual support, English
Record number: 3, Textual support number: 1 DEF
Major break in the chromosomes. 1, record 3, English, - gross%20chromosomal%20aberration
Record 3, French
Record 3, Domaine(s)
- Génétique
Record 3, Main entry term, French
- aberration chromosomique majeure
1, record 3, French, aberration%20chromosomique%20majeure
feminine noun
Record 3, Abbreviations, French
Record 3, Synonyms, French
Record 3, Textual support, French
Record 3, Spanish
Record 3, Textual support, Spanish
Record 4 - internal organization data 1981-04-21
Record 4, English
Record 4, Subject field(s)
- Histology
Record 4, Main entry term, English
- cri du chat syndrome 1, record 4, English, cri%20du%20chat%20syndrome
Record 4, Abbreviations, English
Record 4, Synonyms, English
- cat cry syndrome 1, record 4, English, cat%20cry%20syndrome
- crying cat syndrome 1, record 4, English, crying%20cat%20syndrome
- deletion of short arm of chromosome 5 1, record 4, English, deletion%20of%20short%20arm%20of%20chromosome%205
- B1 deletion syndrome 1, record 4, English, B1%20deletion%20syndrome
Record 4, Textual support, English
Record number: 4, Textual support number: 1 DEF
A hereditary congenital syndrome characterized by hypertelorism, microcephaly, severe mental deficiency, and a plaintive catlike cry, due to deletion of the short arm of a chromosome (4 or 5) of the B group. 1, record 4, English, - cri%20du%20chat%20syndrome
Record number: 4, Textual support number: 1 CONT
Deletions of the short arms of both the early and late replicating pair have been reported, and evidence suggests that the cri du chat syndrome ... results from a substantial deficiency of genetic material in the short arms of the shorter early-replicating chromosome pair (No 5). 1, record 4, English, - cri%20du%20chat%20syndrome
Record 4, French
Record 4, Domaine(s)
- Histologie
Record 4, Main entry term, French
- syndrome du cri du chat
1, record 4, French, syndrome%20du%20cri%20du%20chat
masculine noun
Record 4, Abbreviations, French
Record 4, Synonyms, French
- syndrome de Lejeune 1, record 4, French, syndrome%20de%20Lejeune
see observation, masculine noun
Record 4, Textual support, French
Record number: 4, Textual support number: 1 DEF
Syndrome décrit chez le nourrisson [...] et caractérisé par : 1) des anomalies morphologiques comprenant une microcéphalie, un hypertélorisme avec épicanthus, une implantation basse des oreille, un micro-et un rétrognathisme; 2) une arriération mentale profonde; 3) une consonance particulière du cri comparable au cri du chat; 4) des anomalies dermatoglyphiques à savoir un triradius palmaire en position t’ et un équivalent du pli palmaire transverse unique; 5) une aberration chromosomique caractérisée par une amputation de la moitié environ des bras courts d’un chromosome 4-5. 1, record 4, French, - syndrome%20du%20cri%20du%20chat
Record number: 4, Textual support number: 1 CONT
Ce symptôme est tellement typique pour le tableau pathologique, que Lejeune et Coll. ont préconisé la dénomination assez triviale de «syndrome du cri du chat». 1, record 4, French, - syndrome%20du%20cri%20du%20chat
Record number: 4, Textual support number: 1 OBS
«syndrome de Lejeune» : Syndrome (plurimalformatif) de Lejeune 1, record 4, French, - syndrome%20du%20cri%20du%20chat
Record 4, Key term(s)
- syndrome plurimalformatif de Lejeune
Record 4, Spanish
Record 4, Textual support, Spanish
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