Fig. 1

Results of genetic tests in P1, P2 and P3. A CMA plot of the P1 fetus revealed mosaic duplication of chromosome 15: arr (15)×3 [55%]. B FISH results of the P1 fetus revealed mosaic duplication of chromosome 15: nuc ish (D15Z1 × 3, D16Z3 × 2)[65/100]. MLPA analysis (ME028) of the 15q11 chromosomal region in the P1 fetus revealed that the C copy number ratio was approximately 1.2, and D a duplication is maternally inherited the ratios of imprinted methylation probes are expected to be ~ 0.7 E CMA plot of P2 fetus showing duplication of 15q11q13: arr[GRCh37] 15q11.2q13.1(22770422_28943029)x4. MLPA (ME028) revealed that the 15q11 chromosomal region in P2: F copy number ratio was approximately 2, and G the imprinted methylation probes ratio was 0.8 H CNV-seq plot of P3: 6.5 Mb duplication of 15q11.2q12. I FISH results of the P3 fetus revealed duplication of the 15q11q13 region: nuc ish (D15S11 × 3, D15Z1 × 2)[100]. MLPA (ME028) revealed that the 15q11 chromosomal region in P3:J copy number ratio was approximately 1.6, and K the duplication is paternally inherited the ratios of imprinted methylation probes are expected to be ~ 0.3.