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FRAGILE X SYNDROME PHENOTYPE [1 record]

Record 1 1999-03-01

English

Subject field(s)
  • Cytology
  • Genetics
CONT

The research project concerns characterization of the expression of the FMR-1 gene in various cultured cells under various conditions of growth or states of differentiation ... The research would be more appealing if it were focused on testing a specific hypothesis, particularly one related to the fragile syndrome phenotype or RNA processing ....

CONT

Evidence that methylation of the FMR-I locus is responsible for variable phenotypic expression of the fragile X syndrome. DNA ... was analyzed ... using [a] probe in an unusual fragile X family with 6 brothers, three of whom are affected with fragile X to varying degrees. Fragile X chromosome studies, detailed physical examinations, and psychological testing were completed on all six ... The three affected males spanned the phenotypic and cognitive spectrum of the fragile X syndrome ... [Source: PASCAL database].

French

Domaine(s)
  • Cytologie
  • Génétique
OBS

[syndrome X-fragile :] des anomalies cytogénétiques constantes peuvent être la marque distinctive d'un syndrome hérité comme une maladie monogénique. Tel est le cas par exemple du syndrome X-fragile, principale cause d'arriération mentale masculine génétiquement transmise.

Spanish

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