Karyograms, FISH, and SNP 6.0 profile of SSBP2-CSF1R⁺patients. (A) Karyogram from the diagnostic bone marrow of patient 3 showing that both copies of chromosome 5 are abnormal, consistent with the balanced translocation, t(5;5)(q14;q33). (B) Karyogram from the relapsed bone marrow of patient 9 showing that 1 copy of chromosome 5 is abnormal, consistent with dup(5)(q14q33). (C-D) FISH using SSBP2 and CSF1R BA probes, respectively, confirming the balanced rearrangement in patient 1. (E-F) FISH using SSBP2 and CSF1R BA probes, respectively, showing a partial duplication of both probes on the duplicated 5q in patient 9. (C-F) Original magnification ×100; DAPI, Spectrum Orange and Spectrum Green stain. (G) SNP array profile of chromosome 5 in patient 9, showing duplication of the long arm of chromosome 5, with breakpoints in SSBP2 at 5q14 and CSF1R at 5q33. This duplication was conserved between diagnosis and relapse.