Figure 4From: Molecular and clinical analyses of 16q24.1 duplications involving FOXF1 identify an evolutionarily unstable large minisatellite Results of aCGH and DNA sequence analyses in patient 4. (a, b) aCGH plot (4x180k Agilent microarray) showing the duplicated region in patient 3 in chromosome 16q24.1. (c) Result of FISH analysis showing the 16q24.1 duplication in the proband. (d) Duplication junction fragment visualized on 1% agarose gel in the proband (P), but absent in father (F), mother (M), and control DNA (C). (e) A proposed model of duplication formation mediated by the adjacent unstable minisatellite: 1, 2, and 3 represent template switches with 8 bp insertion (1) and microhomologies (2 and 3). Asterix (*) represents the initial DNA replication slippage event that might have triggered the formation of the described complex genomic rearrangement. Red boxes represent the MLT1D ERVL-MaLR repeat sequences flanking the minisatellite. Green and yellow boxes represent triplicated sequences.Back to article page