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| Topic: |
Science
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| Number of pages / Number of words: |
5 / 1298 |
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Para explicar esta incongruencia, se ha propuesto la existencia de nuevos sindromes con fenotipo similar pero diferente etiologia, fenocopias (2, 6-8), mosaicismos de bajo grado no identificables en tejidos facilmente accesibles como sangre o piel y duplicaciones submicroscopicas del cromosoma 21 en la region q22 (1, 3-4, 9-10)...
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Aunque el Sindrome de Down con cariotipo normal es raro, cuando se presenta un caso clinico como todos los descritos hasta el momento, es factible realizar estudios complementarios o proponer un diagnostico diferencial. Sin embargo cuando el estudio es prenatal, se hace muy dificil suponer el diagnostico de esta situacion, aun en casos como este, donde existia evidencia ecografica sugestiva de una anormalidad cromosomica...
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