Figure 3.

CNVs associated with congenital heart disease in the 17p13.2-13.3 region and relationship to the Miller–Dieker Syndrome (MDS) Critical Region. Deletion in Patient 10 in this study overlapping the NXN gene. Deletion in patient with PAVSD, overriding aorta and PDA (Kowase et al.).³¹ Deletion in patient with Tetralogy of Fallot (Chen et al.).³⁰ Deletion in DECIPHER Patient 4,350 with PDA, PS. Deletion in patient with PDA (Serrenath Nagamani et al. 2009, patient 5). Deletion in patient with PDA, Pulm Hypertension (Shiff et al. 2010, patient B). Duplication in patient with ToF, CNV also overlapping NXN gene (Silversides et al., Case 34).¹⁰ Overlapping region of CNV in Patient 10 with other large deletions associated with CHD, a possible critical region for CHD expression. Previously proposed critical region for MDS within the region of genes YWHAE and PAFAH1B1 (Cardoso et al.).⁵⁰