case_images: PMC4628017_01
case_images: PMC4628017_02
case_images: Interphase FISH analysis of CIN (somatic aneuploidy). a FISH with DNA probes for chromosomes 7 (green) and 18 (red) showing chromosome 7 loss in the right nucleus (metaphase chromosomes show positive signals for these DNA probes). b Interphase FISH with DNA probes for chromosomes Y (green) and X (red) showing chromosome Y loss in the nucleus (metaphase chromosomes show positive signals for these DNA probes). c Rates of chromosome losses (red bars) and gains (golden bars)
case_images: 40064_2015_1399_Fig1_HTML.jpg
case_images: PMC4628017_02_40064_2015_1399_Fig1_HTML.jpg
case_images: Fig1
case_images: FISH with DNA probes for chromosomes 1, 7, 16, 17, 18, X and Y as described earlier (Yurov et al.; Iourov et al.; Vorsanova et al.). FISH analysis confirmed the presence of CIN (aneuploidy) and showed that the rate of somatic/sporadic chromosomal mutations is 3-7 times higher in the index patient (Fig. 1) as to average chromosomal mutation rates in the general population according to our previous studies (Yurov et al.; Iourov et al.; Vorsanova et al.; Hulten et al.).
case_images: Schematic representation of 5p13.3p13.2 duplication detected by high-resolution chromosomal microarray analysis displayed using UCSC Genome Browser on Human Feb. 2009 Q2 381 (GRCh37/hg19) Assembly (http://genome-euro.ucsc.edu/index.html)
case_images: 40064_2015_1399_Fig2_HTML.jpg
case_images: PMC4628017_02_40064_2015_1399_Fig2_HTML.jpg
case_images: Fig2
case_images: High-resolution chromosomal SNP microarray analysis has detected a duplication located at 5p13.3p13.2 (~994 kbps) spanning 11 genes, 6 of which have assigned functions and are listed in OMIM (Online Mendelian Inheritance in Men) database (http://omim.org/) (Fig. 2). According to microarray analysis (Fig. 2), 6 genes were found to be eligible for bioinformatic evaluation.