TERMIUM Plus®

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ANTIMONGOLISM [1 record]

Record 1 2023-04-25

English

Subject field(s)
  • Human Diseases - Various
  • Genetics
CONT

Monosomy 21 is a chromosomal anomaly characterized by the loss of variable portions of a segment of the long arm of chromosome 21 that leads to an increased risk of birth defects, developmental delay and intellectual deficit.

Key term(s)
  • 21q deletion syndrome
  • 21q syndrome
  • anti-mongolism

French

Domaine(s)
  • Maladies humaines diverses
  • Génétique
CONT

La monosomie 21 est une anomalie chromosomique caractérisée par une délétion partielle variable d'un segment du bras long du chromosome 21, qui mène à un risque accru de malformations congénitales, de retard de développement et de déficit intellectuel.

Key term(s)
  • syndrome de délétion 21q-
  • syndrome 21q-

Spanish

Campo(s) temático(s)
  • Enfermedades humanas varias
  • Genética
CONT

El síndrome de monosomía del cromosoma 21 se diagnostica por la demostración de una deleción completa o parcial del cromosoma 21, es muy rara y la mayoría de los reportes involucran diferentes translocaciones, mosaicos, deleción parcial del brazo largo o anillos. Existe una marcada variabilidad clínica por lo cual se puede dificultar el diagnóstico.

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