PMC5364590_01
Array-CGH plots, analysed using Oxford Gene Technology (OGT) CytosureTM Constitutional v3 oligo array, showing. a the 1.8 Mb terminal 6p25.3 deletion with a log2 ratio of -1.0 at genomic coordinates 164360_1773695 (NCBI build 37, February 2009, hg19) and (b) the 2.5 Mb 6q27 duplication with a log2 ratio of +0.58 at genomic coordinates 168682830_170923504 (deleted/duplicated regions circled on chromosome 6 ideogram and magnified and highlighted in main image as indicated by an arrow)
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Fig1
Array CGH identified an approximately 1.8 Mb terminal deletion involving the distal short arm of a chromosome 6, with the breakpoint within a 68kb interval in 6p25.3 (arr(GRCh37) 6p25.3(164360_1773695)x1) (Fig. 1a). The array also detected an approximately 2.5 Mb duplication involving the distal long arm of a chromosome 6, with the breakpoint within a 125kb interval in 6q27 (arr(GRCh37) 6q27(168682830_170923504)x3) (Fig. 1b).
FISH with the chromosome 6 specific centromere probe D6Z1 (green signal), the 6p25.3 BAC RP11-13J16 (a; red signal), and the 6q27 BAC RP11-417E7 (b; red signal) showing a monocentric r(6) chromosome (arrow) with (a) 6p deletion and (b) 6q duplication
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Fig2
The r(6) was shown to be monocentric, deleted for the short arm of 6p (6p25.3) and duplicated for the distal long arm of 6q (6q27) (Fig. 2).