Open Access Research article

Enrichment of ultraconserved elements among genomic imbalances causing mental delay and congenital anomalies

Francisco Martínez1*, Sandra Monfort1, Mónica Roselló1, Silvestre Oltra1, David Blesa2, Ramiro Quiroga1, Sonia Mayo1 and Carmen Orellana1

Author Affiliations

1 Unidad de Genética y Diagnostico Prenatal; Hospital Universitario La Fe; Valencia, 46009; Spain

2 Servicio de Análisis de Microarrays, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain

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BMC Medical Genomics 2010, 3:54  doi:10.1186/1755-8794-3-54

Published: 23 November 2010

Additional files

Additional file 1:

Polymorphic imbalances. Polymorphic imbalances detected in our series of patients with idiopathic mental retardation/developmental delay and congenital anomalies. There are a total of 93 different CNVs present in 115 cases. These CNVs have previously been reported as polymorphisms and/or are present in at least one healthy member of the family. Altogether, these CNVs span a total of 23.74 Mb, excluding the overlapping regions. Note that all these regions do not contain any ultraconserved element.

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