TERMIUM Plus®

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SYNDROME PRADER-WILLI [1 record]

Record 1 2019-12-05

English

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

A congenital disorder characterized by obesity, short stature, lack of muscle tone, hypogonadism, and central nervous system dysfunction[, which is caused] by loss of expression of genes on paternally derived chromosome 15q11-q13, usually as a result of a deletion ...

French

Domaine(s)
  • Maladies humaines diverses
  • Génétique
CONT

Le syndrome de Prader-Willi (SPW) est une maladie génétique complexe due à un défaut d'expression des gènes de la région du chromosome 15q11-q13 d'origine paternelle. Le syndrome associe : une hypotonie néonatale sévère, l'apparition précoce d'une obésité morbide associée à une hyperphagie, une petite taille, un hypogonadisme, des troubles d'apprentissage, des problèmes de comportement et des troubles psychiatriques.

Spanish

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