Home > Malalties Genetiques: Anomalies Cromosomiques, Genodermatosis, Sindrome X Fragil, Malaltia de Danon(Catalan)
Malalties Genetiques: Anomalies Cromosomiques, Genodermatosis, Sindrome X Fragil, Malaltia de Danon(Catalan)

Malalties Genetiques: Anomalies Cromosomiques, Genodermatosis, Sindrome X Fragil, Malaltia de Danon(Catalan)

          
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About the Book

Font: Wikipedia. Pagines: 25. Capitols: Anomalies cromosomiques, Genodermatosis, Sindrome X fragil, Malaltia de Danon, Sindrome d'ataxia i tremolor associada a X fragil, Malaltia de Huntington, Sindrome de Barth, Sindrome de Joubert, Sindrome de Williams, Polineuropatia amiloidotica familiar, Sindrome de Klinefelter, Sindrome de Down, Leucisme, Sindrome de Proteus, Sindrome de Turner, Sindrome de Rett, Sindrome d'Edwards, Sindrome LEOPARD, Sindrome de Strumpell-Lorrain, Xerodermia pigmentada, Trisomia 8, Progeria, Albinisme, Sindrome del triple X, Sindrome del XYY, Malaltia de McArdle, Sindrome de Patau, Daltonisme, Alteracio genetica, Distrofia muscular de Duchenne, Citopatia mitocondrial, Poliquistosi renal, Melanisme, Glicosuria renal. Extracte: La sindrome X fragil (SXF), o mes extensament sindrome del cromosoma X fragil, tambe coneguda com a sindrome de Martin & Bell, es un trastorn que ocasiona retard mental. Es la primera causa hereditaria de retard mental i la segona associada a factors genetics despres de la sindrome de Down, sent aquest ultim d'origen congenit (no necessariament heretat). Aquest trastorn l'ocasiona una classe de mutacio poc habitual: una sequencia reiterada de tres lletres del codi de l'ADN, anomenada repeticio de triplet. Com mes gran sigui el nombre d'aquestes sequencies repetides, mes alta sera la probabilitat que l'afectat sofreixi alteracions greus. El SXF resulta, en particular, d'un defecte en un gen anomenat FMR1. El defecte en aquest gen es una repeticio del trinucleotid CGGn (triplet Citosina-Guanina-Guanina), en una part del mateix que regula la seva expressio. Quan aquest grup de tres nucleotids s'expandeix (es repeteix) mes de 200 vegades, s'extingeix l'expressio del gen o, en altres paraules, es apaga el gen, produint-se aixi el que coneixem com sindrome del X fragil. Ja en el segle XIX, dades epidemiologiques havien constatat un excedent proper al 25 per cent en el nombre pacients homes entre la poblacio de retardats men...


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Product Details
  • ISBN-13: 9781232761556
  • Publisher: Books LLC, Wiki Series
  • Publisher Imprint: Books LLC, Wiki Series
  • Height: 246 mm
  • No of Pages: 26
  • Series Title: Catalan
  • Sub Title: Anomalies Cromosomiques, Genodermatosis, Sindrome X Fragil, Malaltia de Danon
  • Width: 189 mm
  • ISBN-10: 1232761559
  • Publisher Date: 05 Aug 2011
  • Binding: Paperback
  • Language: Catalan
  • Returnable: N
  • Spine Width: 1 mm
  • Weight: 68 gr


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