Uncovering the phenotypic consequences of multi-locus imprinting disturbances using genome-wide methylation analysis in genomic imprinting disorders

Genome wide DNA methylation analysis using blood leukocyte DNA was performed on 15 patients with genomic imprinting disorders (13 Beckwith–Wiedemann syndrome [BWS], two Silver–Russell syndrome [SRS]), and four controls. The Illumina HumanMethylation850 BeadChip was used to obtain DNA methylation profiles at a more than 850,000 CpGs. Bisulphite converted DNA from the 19 samples were hybridised to the Illumina HumanMethylation850 BeadChip