Fig. 4
Segregation of long QT syndrome (LQTS) and Beckwith–Wiedemann syndrome (BWS) phenotypes in a family with a 160-kb KCNQ1 duplication. a Pedigree of family 3, modified from Chiesa et al.16 The proband (III-8) affected by both BWS and LQTS1 is indicated as in Fig. 1. The gray stripes in II-3, II-5, and III-5 indicate borderline prolonged QTc values. Asterisks: family members unavailable for molecular analysis. b Schematic representation of the 160-kb KCNQ1 duplication. The light blue rectangle highlights the region involved in the duplication. Breakpoint 1 is telomeric; breakpoint 2, centromeric. The position of the inverted duplication in the centromeric breakpoint and the the stem-and-loop structure in the KCNQ1 transcript are proposed to explain the molecular data.
