PMC5658965_01
Cytogenetic analysis on bone marrow sample of the patient at diagnosis. a Partial karyogram showing chromosomes 9 and 22 including a normal chromosome 9, a derivative chromosome 9 (green arrow), a normal chromosome 22, and an isodicentric Philadelphia chromosome 22 (red arrow). b Ideograms of G-banding patterns for chromosomes 9 and 22 showing the formation of the isodicentric Philadelphia chromosome 22 with hsr. c Metaphase-FISH using dual-color dual-fusion BCR-ABL1 probes showing multiple copies of BCR-ABL1 fusions in the isodicentric Philadelphia chromosome 22 (red arrow). d Ideograms of FISH signals for BCR and ABL1 genes showing their distributions. e Interphase-FISH using dual-color dual-fusion BCR-ABL1 probes showing multiple copies of BCR-ABL1 fusion signals in 41% of interphase nucleus analyzed (red arrows)
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Fig1
Nine cells (45%) were abnormal with a derivative chromosome 9 involving a 9;22 translocation and a dicentric derivative chromosome 22 involving a 9;22 translocation and a homogeneously staining region at the interface of the 9;22 translocation, which was associated BCR-ABL1 gene amplification (Fig. 1a-b).  Abnormal BCR/ABL1 fusions with the BCR-ABL1 gene amplification were found in 48% of the interphase cells analyzed (Fig. 1c-e).
SNP microarray analysis of bone marrow sample of patient at diagnosis. SNP array analysis of chromosomes 9 (left) and 22 (right). Gain of 9q34 from genomic position (hg19) 133,624,374-139,394,573 (5.8 Mb) including ABL1, and gain of 22q11 from 16,114,244-23,648,478 (7.5 Mb) including BCR are indicated by the right shift of log R as well as change of B allele frequencies. Loss of heterozygosity at 22q12 (5 Mb) in 100% of the cells is observed, which most likely represents a constitutional change also seen in a few regions on other chromosomes in this patient
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Fig2
ABL1 gene, and gain of 22q11 from 16,114,244-23,648,478 (7.5 Mb) including the BCR gene (Fig. 2). Additional findings included loss of heterozygosity at 22q12 (5 Mb), 4q, 5q, 6q, and 22q; all of these were noted in 100% of cells and thus, likely represent constitutional changes.