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. Author manuscript; available in PMC: 2019 Aug 8.
Published in final edited form as: Genet Med. 2019 Jan 12;21(8):1808–1820. doi: 10.1038/s41436-018-0416-7

Figure 4. Segregation of LQTS and BWS phenotypes in a family with a 160 kb KCNQ1 duplication.

Figure 4

(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 Figure 1. The grey strips in II-3, II-5 and III-5 indicate borderline prolonged QTc values. Asterisks: family members unavailable to 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.