Fig. 2.
Fig. 2. (A) Upper Left. Metaphase cell from patient no. 8 labeled with MLL (chromosome 11 in red) and CBP (chromosome 16 in green). The two derivative chromosomes show a fusion signal. (B) an interphase cell from patient no. 6 labeled as in (A). (C) Middle left. Metaphase cell from patient no. 2 showing the PAC probe (307624) labeling the normal 16 and the der(16). (D) Center. Metaphase cell from patient no. 8 showing the PAC probe splitting and labeling both the der(11) and der(16) as well as the normal 16. (E) Right. Metaphase cell from patient no. 1 showing the PAC on the normal 16 and on the der(11). Lineage analysis in patient no. 6. Lower panel. Monocyte, granulocyte, erythroid precursor, and mature lymphocyte (F, G, H, and I, respectively) and the corresponding FISH results below from patient no. 6 with CMMoL-like tMDS. The monocyte, granulocyte, and erythroid precursor show the pattern of one red, one green, and two fusion signals, indicating the presence of MLL/CBP translocation on the der(11) and der(16) chromosomes, whereas the lymphocyte shows the pattern of a normal (nonclonal) cell with two red and two green signals.

(A) Upper Left. Metaphase cell from patient no. 8 labeled with MLL (chromosome 11 in red) and CBP (chromosome 16 in green). The two derivative chromosomes show a fusion signal. (B) an interphase cell from patient no. 6 labeled as in (A). (C) Middle left. Metaphase cell from patient no. 2 showing the PAC probe (307624) labeling the normal 16 and the der(16). (D) Center. Metaphase cell from patient no. 8 showing the PAC probe splitting and labeling both the der(11) and der(16) as well as the normal 16. (E) Right. Metaphase cell from patient no. 1 showing the PAC on the normal 16 and on the der(11). Lineage analysis in patient no. 6. Lower panel. Monocyte, granulocyte, erythroid precursor, and mature lymphocyte (F, G, H, and I, respectively) and the corresponding FISH results below from patient no. 6 with CMMoL-like tMDS. The monocyte, granulocyte, and erythroid precursor show the pattern of one red, one green, and two fusion signals, indicating the presence of MLL/CBP translocation on the der(11) and der(16) chromosomes, whereas the lymphocyte shows the pattern of a normal (nonclonal) cell with two red and two green signals.

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