case_images: PMC6332777_01
case_images: PMC6332777_02
case_images: PMC6332777_03
case_images: Results of molecular analyses. A, The results of methylation analysis using pyrosequencing: Black and gray dotted lines depict upper and lower limit values of the reference range, respectively. The methylation levels of the IG-DMR and MEG3-DMR were below the lower limit values of the reference range. B, microsatellite analysis for chromosome 14. Left: summary of microsatellite results. Right: representative microsatellite results. C, CGH +single nucleotide polymorphism (SNP) microarray profiles for chromosome 14. We performed a single nucleotide polymorphism (SNP) array analysis using the SurePrint G3 ISCA CGH +SNP Microarray Kit (catalog number G4890A, Agilent Technologies). NI, not informative
case_images: CCR3-7-15-g001.jpg
case_images: PMC6332777_03_CCR3-7-15-g001.jpg
case_images: ccr31895-fig-0001
case_images: SNRPN-DMR (Figure 1). Subsequently, to determine the genetic cause of hypomethylation of the IG-DMR and MEG3-DMR, we carried out microsatellite analysis to examine whether he had uniparental disomy (UPD) or not, using gDNA of the patient and his mother. Primer sets for microsatellite analysis were previously reported.4 The parental origin of chromosome 14 was biparental (Figure 1). Subsequently, to detect microdeletion or duplication, we performed single nucleotide polymorphism (SNP) array analysis using the SurePrint G3 ISCA CGH+SNP Microarray Kit (catalog number G4890A, Agilent Technologies). The procedure was as described in the manufacturer's instructions. Consequently, we diagnosed TS14 in the patient caused by an epimutation (Figure 1).