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Fig. 1 | Clinical Epigenetics

Fig. 1

From: Unusual deletion of the maternal 11p15 allele in Beckwith–Wiedemann syndrome with an impact on both imprinting domains

Fig. 1

Identification of a deletion affecting the maternal KCNQ1 allele by a methylation-specific MLPA analysis (assay ME030: upper panel: Copy number analysis, lower panel: methylation analysis) and b KCNQ1-specific MLPA (assay P114). The patient exhibits a deletion within the KCNQ1 gene, but the IC2 sequence itself was not affected. Nevertheless, hypomethylation of the IC2 could be observed. (The control range was based on five individuals of normal epigenotype)

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Clinical Epigenetics

ISSN: 1868-7083

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