TERMIUM Plus^®

Record 1,  Textual support,  English

Record number: 1, Textual support number: 1 DEF

Small white spots on the periphery of the iris, usually crescentic, with the concavity outward, frequently but not exclusively seen in children with Down's syndrome.  1, record 1, English, - Brushfield%27s%20spot

Record number: 1, Textual support number: 1 CONT

(Down's syndrome) If the irides are light, one often sees white nodules of pinpoint placed at regular intervals in a ring near the outer margin. These so-called Brushfield spots are said to be present in all mongoloid children with blue eyes and to disappear when the color changes to brown.  1, record 1, English, - Brushfield%27s%20spot

Record 1,  Textual support,  French

Record number: 1, Textual support number: 1 DEF

Petites taches blanches sur le pourtour de l’iris, habituellement en forme de croissant et dont la concavité est tournée vers l’extérieur. On en constate fréquemment la présence chez des enfants atteints du syndrome de Down mais chez d’autres également.  1, record 1, French, - tache%20de%20Brushfield

Record number: 1, Textual support number: 1 CONT

(Trisomies partielles du chromosome 21 par translocation maternelle t(15;21)(q26 2 ;q21). Des taches de Brushfield sont présentes sur les iris.  1, record 1, French, - tache%20de%20Brushfield

Record 1,  Textual support,  Spanish

Record 2,  Textual support,  English

Record number: 2, Textual support number: 1 DEF

This type of translocation occurs between two acrocentric chromosomes with breaks on opposite sides of the centromere in each chromosome and rejoining of the long arms. This usually results in the loss of a minute centric fragment, the formation of a new metacentric chromosome, and a reduction in chromosome number in the balanced heterozygote. (GENCYT p. 237)  1, record 2, English, - Robertsonian%20fusion

Record number: 2, Textual support number: 1 CONT

(Abnormalities of the autosome - Group D) For instance, the short arms of a D group chromosomes can be deleted or duplicated without any obvious effect. "Robertsonian fusion" can take place between the long arms of two acrocentric chromosomes with loss of one centromere and short arms, resulting in normal and usually fertile heterozygotes who have no obvious loss of fitness and may have some selective advantage. (CLICYT p. 310)  1, record 2, English, - Robertsonian%20fusion

Record 2,  Textual support,  French

Record number: 2, Textual support number: 1 DEF

Rattachement de deux chromosomes acrocentriques par leur région centromérique. (FLAME)  1, record 2, French, - fusion%20robertsonienne

Record number: 2, Textual support number: 1 CONT

Une variété particulière de translocation réciproque s’opère entre les chromosomes acrocentriques, ceux qui appartiennent aux groupes D & G, par exemple entre un chromosome 13 et un chromosome 21. Elle est la conséquence d’une fusion centromérique et entraîne la perte des bras courts et des satellites qu'ils portent. Cette fusion centromérique est dite aussi robertsonienne.(GENMED p. 55)  1, record 2, French, - fusion%20robertsonienne

Record number: 2, Textual support number: 2 CONT

Elles résultent de mutations particulières appelées "fusions centriques" réunissant deux chromosomes acrocentriques non homologues pour constituer un chromosome métacentrique. Désignées aussi sous le nom de "translocations robertsoniennes", elles ont pour effet de modifier le nombre des chromosomes, sans modifier celui des bras chromosomiques.  3, record 2, French, - fusion%20robertsonienne

Record 2,  Textual support,  Spanish

Record 3,  Textual support,  English

Record number: 3, Textual support number: 1 DEF

Morphological term describing the longest segment of the two segments separated by the centromere.  1, record 3, English, - long%20arm%20of%20the%20chromosome

Record number: 3, Textual support number: 1 CONT

Correlations between the clinical characteristics and the chromosomal findings in patients with sex chromosome aberrations provide evidence of homology between the short arm of the X chromosome and the long arm of the Y chromosome. (BIRDEF p. 3)  1, record 3, English, - long%20arm%20of%20the%20chromosome

Record number: 3, Textual support number: 1 OBS

The long arm of a chromosome is designated by the letter "q".  1, record 3, English, - long%20arm%20of%20the%20chromosome

Record 3,  Textual support,  French

Record number: 3, Textual support number: 1 DEF

Terme morphologique se rapportant au plus long des deux segments déterminés par le centromère. (FREUND)  1, record 3, French, - bras%20long%20du%20chromosome

Record number: 3, Textual support number: 1 CONT

(Syndrome de Down avec translocation 13-15/21) L'autosome 21 surnuméraire n’ est pas libre dans le caryotype, mais est attaché par ses bras longs à un chromosome acrocentrique du groupe D(13-15).(ESSE Vol. 5, 8, 1968, p. 3)  1, record 3, French, - bras%20long%20du%20chromosome

Record number: 3, Textual support number: 1 OBS

Le bras long d’un chromosome est désigné par la lettre "q".  1, record 3, French, - bras%20long%20du%20chromosome

Record 3,  Textual support,  Spanish