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Schematic representation of the chromosome 11p15 covered by the MS-MLPA assay. (A) The left panel shows a diagram of the imprinted gene cluster on chromosome 11p15 with normal chromosomal copy number and methylation status. The right panel, MS-MLPA showing a diploid content of chromosome 11p15 (upper panel) and ICR1 and ICR2 for methylated probes (lower panel) in the normal range, consistent with the presence of maternal and paternal chromosomes 11p15. (B) Individuals with paternal 11p15 UPD as visualized by MS-MLPA. ICR1 hypermethylated and ICR2 hypomethylated consistent with loss of maternal chromosome 11p15.
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However, a pattern of homozygosity at chromosome 11p15 was verified by microsatellite markers analyses and confirmed by MS-MLPA consistent with paternal uniparental disomy (UPD) in the germline sample ( Figure 2 ).
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