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. 2015 Aug 26;3(10):814–816. doi: 10.1002/ccr3.357

Figure 1.

Figure 1

Cytogenetics study of bone marrow sample at BCP-ALL diagnosis. Karyotype was: 46,XX,der(21) [20] and displayed a grossly abnormal derivative chromosome 21 (A). FISH analysis on interphase (B) and metaphase (C) using a probe specific to RUNX1 (green signals) on chromosome 21q22 confirmed the amplification of RUNX1 with a median of 6 extra copies and implication of the derivative chromosome 21. SNP-array revealed complex copy number variations with the highest level of amplification located within the RUNX1 locus (screenshot from Chromosome Analysis® suite). Copy number (referred to SmoothSignal) is 2 for normal situation, <2 for loss (red boxes), and >2 for gain/amplification (blue/dark blue boxes) (D).