Figure 3.
MS-MLPA copy number status determination for PWS subjects. (A) PWS subject with maternal uniparental disomy 15 and a copy number for PWS probes at approximately 2 (non-deletion status). (B) PWS subject with 15q11-q13 Type I deletion and a copy number for PWS probes at approximately 1 (deletion status) and reference probes at approximately 2 (non-deletion status). (C) PWS subject with 15q11-q13 Type II deletion and the chromosome 15q11.2 BP1-BP2 region involving TUBGCP5 and NIPA1 probes not deleted while other PWS 15q11-q13 probes are deleted.