With array-based genome-wide analyses of copy number variations (CNVs), in up to 19% of patients with idio-pathic mental retardation or developmental delay and other complex disorders, pathogenic segmental aneuploi-dies have been detected [Hochstenbach et al., 2011]. Deletions, being either terminal or interstitial and including recurrent microdeletion syndromes, account for roughly half of the genomic imbalances in such patients. De novo deletions in sporadic patients are generally believed to be pathogenic [Gijsbers et al., 2011]. Genes within an inherited deletion, however, cannot provoke a phenotypic effect by mere haploinsufficiency, since these genes were also found in a single copy in a healthy parent.
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