Retardo mental, malformaciones congénitas y aberraciones cromosómicas subteloméricas crípticas
Palabras clave:
RETARDO MENTAL Y MALFORMACIONES CONGÉNITAS, ABERRACIONES CROMOSÓMICAS CRÍPTICASResumen
Los recientes progresos tecnológicos ocurridos en citogenética molecular han permitido la detección de numerosas minúsculas aberraciones en la región cromosómica contigua al telómero o segmento subtelomérico, que han sido relacionadas con diversos cuadros de retardo mental, malformaciones congénitas y otros síndromes de interés médico. Investigaciones previas, llevadas a cabo mediante exploración microfotométrica y análisis gráfico computacional del subtelómero, revelaron diferentes patrones de distribución de las densidades de la cromatina y la existencia de intercambios sumamente pequeños entre cromátidas hermanas en dicho segmento cromosómico. La detección de aberraciones crípticas sindromáticas, el elevado número de intercambios cromosómicos y las observaciones microscópicas sobre la estructura subtelomérica sugieren que reflejan la gran actividad genómica y la complejidad estructural prevalente en la región. En la presente revisión se describen brevemente varios síndromes cromosómicos subteloméricos, así como la estructura molecular y citológica de la región subtelomérica y las principales funciones del segmento cromosómico terminal a fin de brindar un panorama general sobre esta área de investigaciones en rápido crecimiento de considerable significación biomédica.
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2005-06-30
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Drets ME, Santiñaque FF. Retardo mental, malformaciones congénitas y aberraciones cromosómicas subteloméricas crípticas. Rev. Méd. Urug. [Internet]. 30 de junio de 2005 [citado 21 de noviembre de 2024];21(2):93-106. Disponible en: https://revista.rmu.org.uy/index.php/rmu/article/view/813
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