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Microdeleciones y microduplicaciones

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Anomalías cromosímicas parte B

Created by

Zeneida Santiago
Zeneida Santiago
Spain

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Microdeleciones y microduplicacionesOnline version

Anomalías cromosímicas parte B

by Zeneida Santiago
1

mayor Lupski anomalía parental clínicamente sondas síndrome cardíacos Potocki fluorescentes pequeños autismo hipotonía

Los síndromes de microdeleción difieren de los síndromes de deleción cromosómica en que los primeros son visibles en el cariotipo debido a su tamaño ( normalmente > 5 megabases ) , mientras que las anormalidades en los síndromes de microdeleción implican segmentos más ( típicamente de 1 a 3 megabases ) y son detectables solo con ( hibridización fluorescente in situ ) y análisis cromosómico de micromatrices .

La mayoría de las microdeleciones y microduplicaciones significativas parecen ocurrir de forma esporádica ; sin embargo , puede diagnosticarse una afección leve en los padres cuando se hace estudio al hallar una en un niño .

La microduplicación recíproca que afecta el cromosoma 17p11 . 2 se asocia con el síndrome de - . Los lactantes con este tienen , problemas de alimentación , falta de maduración , defectos , retraso del desarrollo y .

 
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