Table 3. Summary of DNA methylation data from Illumina 450 K array findings at chromosome 11p15.5 loci.
Imprinted region | Chromosome | Genomic location (hg19) | Case 1 | Case 2 | Case 3 |
---|---|---|---|---|---|
H19 Promoter | 11p15.5 | 2 019 079–2 019 167 | GOM | Normal | Normal |
IC1 | 11p15.5 | 2 019 568–2 024 126 | GOM | Normal | Normal |
IC2 | 11p15.5 | 2 720 463–2 722 086 | LOM | LOM | LOM |
Abbreviations: GOM, gain of methylation; IC1, imprinting centre 1 (H19 imprinting centre); IC2, imprinting centre 2 (KCNQ1OT1 IC); LOM, loss of methylation. Gain or loss of methylation at each probe defined as 2.5 s.d.’s from the mean of the values for control samples. Gain or loss of methylation for a region determined through examination of all imprinted probes in that region (see text for details of methods, see Supplementary Table 2 for detailed array data).