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Fig. 3 | Clinical Epigenetics

Fig. 3

From: A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver–Russell and Beckwith–Wiedemann syndromes

Fig. 3

SNP array Bead Studio output of selected BWS borderline cases. All the indicated BWS patients, “suspected” by microsatellite 11p15 analysis, are confirmed to carry a mosaic segmental paternal uniparental disomy (upd(11)pat). Patients are listed from top to bottom according to decreasing extent of the mosaic isodisomy (framed in red in the ideogram below each profile). The percentage of upd(11)pat in the DNA from blood cells, calculated from the array data as described (see the “Methods” section), ranges from 20 % (BWS-15, BWS-21) to 15 % (BWS-14) down to 10 % (BWS-12, BWS-13, and BWS-16)

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