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POLYDYSSPONDYLISM [1 record]

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Record 1 2011-10-03

English

Subject field(s)
  • Genetics
DEF

Malformation of several vertebrae, associated with dwarfed stature, low intelligence, and malformation of the stella turcica.

CONT

The second chromosomal disorder discovered in our laboratory has been called polydysspondylism ("Polydysspondylie", Turpin et al., 1959) on account of the vertebral lesions which accompany it.

French

Domaine(s)
  • Génétique
DEF

Malformation caractérisée par une insuffisance de poids et de taille, un retard psychique et de nombreuses anomalies vertébrales. Elle est en rapport avec une atypie des chromosomes, le noyau cellulaire ne contenant que 45 au lieu de 46 chromosomes, en raison d'une translocation entre les chromosomes automiques des plaires 13 et 22.

CONT

(Translocations) La première observation de translocation chez l'homme concernait un enfant hypotrophique avec retard du développement mental et malformations de la colonne vertébrale, d'où le nom de polydysspondylie proposé pour cette affection.

Spanish

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