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SPONTANEOUS CHROMOSOMAL BREAKAGE [1 record]

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Record 1 1986-08-13

English

Subject field(s)
  • Genetics
DEF

Phenomenon producing either a loss of chromosomal material or a structural modification without any change in the quantity of material and produced by a cause which is not known.

CONT

Spontaneous chromosomal breakage has been found in six inherited diseases: ataxia telangiectasia, glutathione reductase deficiency, Kostmann's agranulocytosis and pernicious anemia.

French

Domaine(s)
  • Génétique
DEF

Phénomène provoquant soit une perte de matériel chromosomique, soit une modification de structure sans que la quantité de matériel soit changée, et se déclenchant sans cause décelable.

CONT

(Le syndrome de Bloom) Les anomalies chromosomiques font rentrer ces deux observations dans le cadre des "cassures chromosomiques spontanées" englobant, selon Schroeder et Kurt (1971), six maladies héréditaires : le syndrome de Bloom, l'anémie de Fanconi, l'ataxie télangiectasie, le déficit en glutathion peroxydase, l'agranulocytose de Kostmann et l'anémie pernicieuse.

Spanish

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