Table 2

Clinical outcomes in carriers of 11p15 imbalances as they can be delineated from some ‘key’ cases/families

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  • The phenotype is associated with (a) origin—the parent contributing the variant, (b) type of imbalance (duplication/deletion), (c) the affected regions in both ICR1 and ICR2 and (d) the size of the aberration (grey: duplication, black: deletion; horizontal striping: this region is partially affected).

  • *Coordinates of the CDKN1C enhancer are from Algar et al 2011; the exact physical positions of the CDKN1C enhancer, the H19 DMR and the KCNQ1OT1 DMR are currently unclear.

  • BWS, Beckwith–Wiedemann syndrome phenotype; DMR, differentially methylated region; mat, maternal; pat, paternal; SRS, Silver–Russell syndrome phenotype.