PMC6683815_01
Copy number changes in chromosome 3p. Copy loss in bands 3p26.3-p26.1 (genomic coordinates: chr3:101072_5470617), estimated size 5.37-5.53 Mb. Copy gain in bands 3p26.1-p24.3 (genomic coordinates: chr3:5530662_19214536), estimated size 13.68-13.75 Mb. GRCh37/hg19 (Feb. 2009).
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fig1
Data was analyzed through CytoGenomics (Agilent Technologies) and visualized through Genoglyphix  (PerkinElmer, Waltham, MA, USA). aCGH analysis revealed a 5.37 Mb deletion encompassing 3p26.1-3p26.3, containing a total of 22 genes (13 OMIM genes and 9 other genes) (Figure 1). In addition, there was a 13.68 Mb duplication encompassing 3p24.3-3p26.1, which contained a total of 126 genes (70 OMIM genes and 56 other genes) (Figure 1).
FISH analysis demonstrating the 3p26.1 to 3p24.3 inverted duplication. The probes, RP11-451A20 at 3p24.3 (green) and RP11-266J6 at 3p25.3 (red), demonstrated 2 signals for each in a green, red, red, green pattern.
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fig2
Further analysis with the RP11-451A20 probe at 3p24.3 and RP11-266J6 at 3p25.3 demonstrated 2 signals for each of the probes in a green, red, red, green pattern on the derivative chromosome 3 (Figure 2).