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. 2017 Oct 20;3(12):574–578. doi: 10.1016/j.hrcr.2017.08.003

Figure 3.

Figure 3

A: Array comparative genomic hybridization analysis (Agilent 180k microarray) showing the 1.23-Mb duplication in chromosomal region 1p13.3p13.2 (chr 1: 111,772,409_113,005,539 bp (hg19)) in proband's DNA compared to 2 control DNAs, in a mirror view. Left panel: blue line indicating the 12p11.21 position of the deletion on the chromosome whole view. Right panel: detailed view of the duplicated region. B: Familial pedigree of the patient with a neo-duplication in the Kv4.3 α subunit of the human cardiac fast transient outward K+ channel (KCND3). The patient's 2-year-old daughter also carries the duplication of KCND3. (+) represents gene-positive patients and black-filled symbol represents phenotype-positive patients. C: Twelve-lead electrocardiogram of the patient's daughter showing mild early repolarization pattern. D: Twenty-four-hour Holter monitoring showed augmentation of early repolarization pattern during nighttime compared to daytime.