Submicroscopic 11p13 deletion including the elongator acetyltransferase complex subunit 4 gene in a girl with language failure, intellectual disability and congenital malformations: A case report

Figure 2 CytoScan high definition array and schematic representation of the result. The figure shows chromosome 11p13 and the relative positions of the MPPED2, DCDC5, DCDC1, DNAJC24, IMMP1L, ELP4, and PAX6 genes within the deleted interval. A partial molecular karyotype of the submicroscopic on chromosome 11 detected with the CytoScan high definition array is also illustrated. A single copy of the 40 Kb region was identified on log² ratio analysis. Some affected patients with deletions in the 11p13 region are also shown.