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TURNERS SYNDROME [3 records]

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.

Save record 1

Record 2 2011-02-18

English

Subject field(s)
  • Non-Gov. Provincial Bodies and Committees (Canadian)
  • Human Diseases - Various
OBS

Title confirmed by the association.

Key term(s)
  • Turner's Syndrome Society of Quebec
  • Turner's Syndrome Association of Quebec
  • Quebec Turner Syndrome Society

French

Domaine(s)
  • Organismes et comités provinciaux non gouv. canadiens
  • Maladies humaines diverses
OBS

L’Association du Syndrome de Turner du Québec est une association à but non-lucratif fondée en 1984. Elle constitue le volet québécois et francophone de la Société canadienne du Syndrome de Turner. Sa mission vise à faire connaître les personnes atteintes du Syndrome de Turner, à faire circuler l’information médicale portant sur cette condition génétique et à créer des liens entre les personnes atteintes ou leurs familles.

Spanish

Save record 2

Record 3 1998-09-29

English

Subject field(s)
  • National Bodies and Committees (Canadian)
  • Human Diseases - Various
OBS

Organization which is established in Concord, Ontario.

Key term(s)
  • Society of Turner's Syndrome

French

Domaine(s)
  • Organismes et comités nationaux canadiens
  • Maladies humaines diverses
OBS

Organisme établi à Concord (Ontario).

Spanish

Save record 3

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