Array CGH como primera opción en el diagnóstico genético: 1.000 casos y análisis de coste-beneficio

Array CGH como primera opción en el diagnóstico genético: 1.000 casos y análisis de coste-beneficio

Resumen: Fundamento y objetivo: La citogenética convencional detecta un 3-5% de los pacientes con retraso global del desarrollo/discapacidad intelectual y/o malformaciones congénitas. La amplificación de sondas múltiples dependientes de ligación permite incrementar la tasa diagnóstica entre 2,4-5,8...

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Bibliographic Details
Main Authors:	Neus Castells-Sarret, Anna M. Cueto-González, Mar Borregan, Fermina López-Grondona, Rosa Miró, Eduardo Tizzano, Alberto Plaja
Format:	Article
Language:	Spanish
Published:	Elsevier 2018-07-01
Series:	Anales de Pediatría
Subjects:	Comparative genomic hybridisation array Microdeletion syndrome Intellectual disability Global developmental delay Autism spectrum disorders Congenital malformation
Online Access:	http://www.sciencedirect.com/science/article/pii/S1695403317303065

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