Figure 2.
Complex genomic rearrangement resulting in BCR-JAK2. (A) A partial karyotype from a metaphase cell shows an apparently reciprocal translocation between the short (p) arm of chromosome 9 and the long (q) arm of chromosome 22 or a t(9;22)(p24;q11.2). Arrowheads mark the breakpoints on the derivative chromosomes 9 and 22. (B) Genome sequencing defined a more complex rearrangement involving a translocation between 9p24 and 22q11.2 and associated inversion involving 22q11.2. The arrows note the direction of the fusions moving from 5' to 3'. This rearrangement resulted in DNA fusions juxtaposing the intronic regions of BCR-JAK2, JAK2-PPM1F, and PRAMENP-BCR. (C) Idiograms and (D) inferred structure of the derivative chromosomes based on hg38 assembly, NM_014634.4 (PPM1F), NM_004972.3 (JAK2), NM_004327.4 (BCR), and NR_135291.1 (PRAMENP).

Complex genomic rearrangement resulting in BCR-JAK2. (A) A partial karyotype from a metaphase cell shows an apparently reciprocal translocation between the short (p) arm of chromosome 9 and the long (q) arm of chromosome 22 or a t(9;22)(p24;q11.2). Arrowheads mark the breakpoints on the derivative chromosomes 9 and 22. (B) Genome sequencing defined a more complex rearrangement involving a translocation between 9p24 and 22q11.2 and associated inversion involving 22q11.2. The arrows note the direction of the fusions moving from 5' to 3'. This rearrangement resulted in DNA fusions juxtaposing the intronic regions of BCR-JAK2, JAK2-PPM1F, and PRAMENP-BCR. (C) Idiograms and (D) inferred structure of the derivative chromosomes based on hg38 assembly, NM_014634.4 (PPM1F), NM_004972.3 (JAK2), NM_004327.4 (BCR), and NR_135291.1 (PRAMENP).

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