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

Figure 1

Chromosome 15 ideogram showing breakpoints BP1–BP5 in 15q11.2-q13 and the PWS/AS common deletion regions (green). Genes located in each breakpoint interval are shown below (blue = paternal expression/maternal imprint; purple = maternal expression/paternal imprint; black = biallelic expression/no imprint). ^*APBA2 is a nonimprinted gene utilized in MS-MLPA (see Figure 2).