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TRISOMIA PARCIAL [1 record]

Record 1 2010-10-26

English

Subject field(s)
  • Genetics
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.

French

Domaine(s)
  • Génétique
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».

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.

Spanish

Campo(s) temático(s)
  • Genética
DEF

Presencia de una copia adicional de parte de un cromosoma.

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