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Figure 3 | BMC Medical Genetics

Figure 3

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

Figure 3

Results of aCGH and DNA sequence analyses in patients 2 and 3. (a) aCGH plot obtained using 4x180K microarray (Agilent) in patient 2 shows three duplicated regions in 16q23.3, 16q24.1, and 16q24.2. (b) aCGH plot from Illumina SNP-Array (Infinium® CytoSNP-850K showing duplication on chromosome 16q24.1 in patient 3’s daughter. (c) Duplication junction fragment visualized on 1% agarose gel in the proband (P) and her daughter (D), but absent in the control DNA (C). (d) Chromatogram of the DNA sequence of the junction fragment showing the 3 bp AGA microhomology.

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BMC Medical Genetics

ISSN: 1471-2350

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