TERMIUM Plus®

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TURNER SYNDROME [1 record]

Record 1 2016-06-28

English

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

OBS

Turner's syndrome is typically associated with absence of the second sex chromosome (XO or 45,X) ...

OBS

gonadal dysgenesis: This general term for a defective development of the gonads is sometimes used to refer specifically to Turner syndrome.

Key term(s)
  • Turner's syndrome

French

Domaine(s)
  • Maladies humaines diverses
  • Génétique
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.

Spanish

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

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