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Figure 4 | BMC Medical Genetics

Figure 4

From: Molecular and clinical analyses of 16q24.1 duplications involving FOXF1 identify an evolutionarily unstable large minisatellite

Figure 4

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.

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