PMC5594429_01
PMC5594429_02
a G-banding showing the complex karyotype, chromosomal aberrations are pointed by the arrows; (b) Whole chromosome paints (WCP) for chromosomes 7 and 15 confirmed the unbalanced nature of the translocations observed in G-banding; (c) Application of ETV1/CEP7 and JAZF1 break-apart combined with WCP for chromosome 7 probes narrowed the breakpoint down to 7p21 and showed the ETV1 gene deletion
13039_2017_335_Fig1_HTML.jpg
PMC5594429_02_13039_2017_335_Fig1_HTML.jpg
Fig1
47,XY,t(3;5)(q21;q32),add(7)(p?),add(15)(q?),+21c / 47,XY,add(7)(p?),add(15)(q?),+21c /47,XY,+21c (Fig. 1a). Initially, we used the whole chromosome painting (WCP) probes for chromosomes 7 and 15 (Fig. 1b). Thus, we could narrow down the breakpoint between deletion 7p21 and 7p15, revealing the deletion of the ETV1 gene (Fig. 1c).
a M-FISH results showing the trisomy 21 and the involvement of chromosomes 3, 4, 5, 7 and 15 in this complex karyotype; (b) Pseudocolor depiction of MCB for the chromosomes involved in the complex rearrangement; (c-e) Schematic drawings of the rearranged chromosomes compared to their formats in G-banding
13039_2017_335_Fig2_HTML.jpg
PMC5594429_02_13039_2017_335_Fig2_HTML.jpg
Fig2
With multicolor-FISH, the complex karyotype was confirmed and refined as 47,XY,der(3)del(3)(p),der(4)t(4;5),der(7)t(7;15),+21c (Fig. 2a). Multicolor banding (MCB) was performed for chromosomes 1, 3, 4, 5, 7 and 15 (Fig. 2b), as described by Liehr and colleagues. The chromosomal rearrangements and the breakpoints involved in derivative chromosomes 1, 3, 4, 5, 7 and 15 were defined (Fig. 2c-e).
PMC5594429_03