An Atypical 15q11.2 Microdeletion Not Involving SNORD116 Resulting in Prader–Willi Syndrome

Figure 2

Visualization of chromosomal microdeletions at 15q11.2-q13.3 associated with PWS. The top half of this figure demonstrates a schematic of the 15q11.2-q13.3 locus (not to scale). The classic type I and II deletions (6 Mb and 5.6 Mb, respectively) associated with PWS are shown for reference as grey bars. The PWS and Angelman syndrome (AS) regions are highlighted in yellow and blue, respectively. Breakpoints (BP) are also indicated. The lower half of the figure demonstrates a 420 kb region that contains microdeletions reported in the literature that are adjacent to the deletion described in this paper. Deletions associated with a classic PWS phenotype are shown in dark grey, and those associated with a nonclassic PWS phenotype are shown in light grey. The red box denotes the location of the deletion described in this paper, which includes exons 2 and 3 of SNRPN (NM_001400738.1). The gene symbols associated with select transcripts of clinical importance are displayed. The term “SNURF-SNRPN” is utilized here for consistency with prior literature and reflects the bicistronic nature of the transcript.