Simplex (O’Driscoll et al., 2010). While the CNV in Chr6:79,034,386-79,090,197 is located in a gene desert, there is evidence that suggests a link between chromosome region 6q14.1 and mild mental retardation, language delay, and minor dysmorphisms (Lespinasse et al., 2009; Puppala et al., 2011). Also, it is hypothesized that non-coding intergenic regions, such as this, may contain regulatory elements, such as enhancers and chromosome scaffold components that are capable of changing gene expression.
