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Figure 2 | BMC Medical Genetics

Figure 2

From: Beckwith Wiedemann imprinting defect found in leucocyte but not buccal DNA in a child born small for gestational age

Figure 2

Capillary electrophoresis pattern generated from the methylation specific MLPA reaction using the BWS/RSS probemix. Upper panel indicates the result from the digestion reaction in the proband leucocyte sample, the lower panel indicates the result from the non-digested proband leucocyte sample. Dashed arrows indicate the four different CpG sites in the H19DMR and the solid arrows indicate the four different CpG sites in the KvDMR. Greater than 50% signal reduction at these sites indicate loss of methylation, which is observed at KvDMR but not at H19DMR.

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