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Fig. 2 | Clinical Epigenetics

Fig. 2

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

Fig. 2

Simplified (hypothetical) effects of the deletion in our patient on the regulation of the imprinting domain in 11p15.5. In the upper figure, the normal situation is shown, whereas the effects of deletions in the maternal (corresponding to our patient) or in the paternal allele are illustrated and described in the lower figures. (*consequences for the KCNQ1 isoform 2 which underlies genomic imprinting during embryogenesis; not to scale; arrows: expression of genes; filled lollipops: methylated ICs, empty lollipops: unmethylated ICs; green circles: enhancer elements; grey rhomb: CTCF; − suppression of expression, + enhancing of expression)

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Clinical Epigenetics

ISSN: 1868-7083

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