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      { "type" : "literal", "value" : "La s\u00EDndrome de Bloom, \u00E9s un estrany desordre cromos\u00F2mic causat pet un gen autos\u00F2mic recessiu, que consisteix en una alta freq\u00FC\u00E8ncia de trencaments i canvis en els cromosomes de la persona afectada. La s\u00EDndrome, va ser descoberta i primer descrit pel doctor en dermatologia David Bloom en 1954." , "lang" : "ca" } ,
      { "type" : "literal", "value" : "A S\u00EDndrome de Bloom (BLM), \u00E9 um raro dist\u00FArbio cromoss\u00F4mico de gene recessivo autossomo caracterizado pela alta freq\u00FC\u00EAncia de quebras e rearranjos nos cromossomos de uma pessoa infectada. A doen\u00E7a foi descoberta e diagnosticada pela primeira vez pelo Doutor David Bloom em 1954." , "lang" : "pt" } ,
      { "type" : "literal", "value" : "El s\u00EDndrome de Bloom (BLM), tambi\u00E9n conocido como s\u00EDndrome de Bloom-Torre-Machacek, es un raro trastorno cromos\u00F3mico autos\u00F3mico recesivo caracterizado por una alta frecuencia de rupturas y reordenamientos en los cromosomas de los afectados. Fue descrita por primera vez por el dermat\u00F3logo David Bloom en 1954 y en la actualidad se han descrito m\u00E1s de 100 casos." , "lang" : "es" } ,
      { "type" : "literal", "value" : "Le syndrome de Bloom se caract\u00E9rise par un retard de croissance pr\u00E9 et post-natal ainsi que par des \u00E9ryth\u00E8mes survenant le plus souvent au visage lors de l'exposition au soleil. Le diab\u00E8te et les infections pulmonaires ou auriculaires sont fr\u00E9quentes. Les gar\u00E7ons sont st\u00E9riles et les filles pr\u00E9sentent une m\u00E9nopause pr\u00E9coce. Des troubles de l'apprentissage sont habituels. Les individus atteints de ce syndrome ont une incidence de cancer tr\u00E8s \u00E9lev\u00E9e ce qui constitue la principale cause de mortalit\u00E9. Ces cancers surviennent pr\u00E9coc\u00E9ment. Le diagnostic est pos\u00E9 par l'indentification d'une augmentation du taux d'\u00E9change entre les chromatides s\u0153urs en comparaison avec des cellules normales lors de l'exposition \u00E0 la bromod\u00E9oxyuridine. Cette anomalie ne survient que chez les individus porteurs du syndrome de Bloom et constitue l'unique moyen de faire le diagnostic." , "lang" : "fr" } ,
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