Enrichment of ultraconserved elements among genomic imbalances causing mental delay and congenital anomalies
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
BMC Medical Genomics 2010, 3:54 doi:10.1186/1755-8794-3-54Published: 23 November 2010
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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