PWS/AS MS-MLPA Confirms Maternal Origin of 15q11.2 Microduplication

Figure 2

MS-MLPA analysis for determination of 15q11.2 duplication. -axes represent fragment size in bps and -axes represent probe peak ratios. (a) MLPA copy number peak ratio: red = PWS/AS region probes; green = non-PWS/AS region probes. 1 = TUBGCP5; 2 = APBA2; 3 = NIPA1; X (2 copies) and Y (0 copies) chromosome in female patient. (b) MS-MLPA digestion of five HhaI methylation sensitive probes: 4 = SNRPN intron 1; 5 = SNRPN exon 1; 6 = SNRPN intron 1; 7 = SNRPN promoter; 8 = NDN; * = HhaI digestion controls.

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