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. 2016 Nov 10;6(1):3–17. doi: 10.1055/s-0036-1593840

Fig. 4.

Fig. 4

Testing strategies for imprinting disorders (ID) based on initial methylation analysis ( A ) or simultaneous methylation and CNV analysis by MS-MLPA ( B ). *Karyotype analysis to test for structural chromosome rearrangements can be initiated at the same time as methylation analysis if this is a known cause for an ID. **If all testing is negative, but the phenotype is highly suggestive of a specific ID, testing of another cell type (skin fibroblasts, buccal cells) can be considered to detect somatic mosaicism. ***In the majority of cases, an ID will be due to an idiopathic methylathion change, however depending on the resolution of previous CNV analysis, testing for ICR microdeletion/microduplication can be performed to rule out inherited genomic alterations.