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

Figure 4

SNURF-SNRPN exons 9 and 10 and SNORD116. (a). Analysis using established clinical expression reverse transcribed RNA assay in peripheral lymphoblasts showing normal expression of SNRPN exons 9 and 10 in the patient (column labeled Pt and with arrow). Top band is control gene product (WASP), second band is SNRPN exons 9 and 10 as described in previous literature [20]. Columns from left to right: ladder, present case, positive control (patient with PWS without SNRPN exons 9 and 10), and negative control (patient who does not have PWS with present SNRPN exons 9 and 10). (b). Demonstration of SNORD116 expression in patient. Columns from left to right: markers, present case, and control (patient who does not have PWS). Lowest band is SNORD116. Pt, patient; Pos, positive; Neg, negative; M, markers; PWS, Prader-Willi syndrome.

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