PMC4528810_01
a, b, and c show the final partial G-banding karyotype. a t(2;15)(p22.3;q21.1); b del(5)(q22); c t(2;14)(q23.1;q32.2). d FISH with LSI 5p15/5q31 (EGR1) showing a deletion of the red signal (5q31) in a metaphase and in nuclei interphase. e FISH with WCP for chromosome 2 (green), 14 (red) and 15 (yellow) shows translocation between chromosomes 2, 14 and 15 (R-DAPI image). f FISH-results characterizing the normal and derivative chromosomes 2, 5, 14 and 15 are summarized. In the first line results of MCB for chromosome 2 are depicted and show both derivatives 2 and derivative 14 and 15. The second line shows the normal chromosome 5 and a derivative of chromosome 5. The third line shows the normal chromosome 14 and the derivative chromosomes 2 and 14. The fourth line shows the normal chromosome 15 and the derivative chromosomes 2 and 15. Here, MCB probe sets for chromosomes 2, 5, 14 and 15 were used. According to FISH and MCB results, the karyotype was re-interpreted as 46,XY, t(2;14)(q23.1;q32.2), t(2:15)(p22.3;q21.1) and del(5)(q22-qter)
13039_2015_167_Fig1_HTML.jpg
PMC4528810_01_13039_2015_167_Fig1_HTML.jpg
Fig1
G-banding studies revealed a karyotype 46,XY,der(2)?t(2;15),del(5), der(14)?add(14)(q23) in 15 of 20 metaphases analyzed (Figs. 1a, b and c). FISH was performed using the LSI EGR1 SpectrumOrange/D5S23 (5q31), D5S721 SpectrumGreen (5p15) probes (Vysis) and showed a heterozygous EGR1 deletion in 10 metaphases analyzed and interphase nuclei analysis revealed the same pattern in 150 of 200 analyzed cells (Fig. 1d). Although FISH using LSI IGH break apart showed no split signal (Fig. 1e), the position of IGH normal signal suggested that there was a translocation between the chromosomes 2 and 14 (Fig. 1e). Whole Chromosome Painting (WCP) probes for chromosomes 2, 14 and 15 were also applied and the results revealed a translocation between chromosomes 2 and 14 and also between the other homolog of chromosome 2 and chromosome 15, therefore the karyotype had no normal chromosome 2 (Fig. 1f). Overall, MCB characterized a complex chromosomal alteration between chromosomes 2, 14 and 15 (Fig. 1g).