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FRAGILE X SYNDROME [4 records]

Record 1 2002-10-07

English

Subject field(s)
  • Genitourinary Tract
CONT

Macroorchidism(enlarged testicles)... is particularly common in males with fragile X syndrome.

Key term(s)
  • macro-orchidism
  • macro orchidism

French

Domaine(s)
  • Appareil génito-urinaire
CONT

Macroorchidisme et spermatogénèse dans le syndrome de l'X fragile.

Key term(s)
  • macro-orchidisme
  • macro orchidisme

Spanish

Save record 1

Record 2 2000-06-12

English

Subject field(s)
  • Animal Diseases
CONT

Chromosome evaluation was carried out on blood culture samples of 40 animals including six baldy calves, to determine whether the Fragile X chromosome reported previously in baldy calves is a consistent feature of this syndrome. Influence of the baldy calf environment on the integrity of chromosome was tested by inoculating cultures of lymphocytes from normal heifers, with either various concentrations of plasma from baldy calves or Mycoplasma arginini isolated from clinical cases of Baldy Calf Syndrome.

French

Domaine(s)
  • Maladies des animaux
DEF

Anomalie héréditaire du veau, caractérisée par de l'alopécie, des lésions cutanées, une croissance médiocre et une absence de pousse de cornes frontales et des onglons.

OBS

Jusqu'ici la maladie n'a été observée que dans la race Holstein. Les veaux sont normaux à la naissance, mais à l'âge d'un mois ou de deux, ils perdent de l'état en dépit d'un appétit solide, leurs articulations s'enraidissent et ils présentent des anomalies de la peau.

Spanish

Save record 2

Record 3 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

Save record 3

Record 4 1987-01-20

English

Subject field(s)
  • The Genitals
CONT

The fragile X syndrome is characterized by mental retardation, macroorchidism and mild abnormalities of connective tissue.

French

Domaine(s)
  • Organes génitaux
CONT

La fragilité existant sur l'X en q 27 q 28 est responsable chez le garçon d'un syndrome malformatif associant front haut, lèvres épaisses, oreilles grandes et décollées, macro-orchidie après la puberté et retard mental dominé par les troubles du comportement et du langage.

Spanish

Save record 4

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