Fig. 3

Profiles of a-CGH and FISH signals in patients with more than one abnormal clone. The a-CGH profiles of chromosome 20 and chromosome 3 of patient 4 show a large deletion del(20)(q), a small duplication of the long arm of chromosome 20 and a large duplication of chromosome 3 (a). The a-CGH profiles of BM samples from patient 9 drawn in 2009 and 2017 show two distinct sequential clones with deletions of different sizes (b). The a-CGH profile of patient 2 shows two overlapping deletions in (20)(q), one larger and one smaller, included in the first one, and both leading the loss of the EIF6 gene (c). The double color FISH on nuclei of patient 14 at the BM sample drawn in 2019 (d), with two different probes (indicated in the figure), demonstrates that one clone bear a large deletion (loss of both signals, below), and another clone a smaller deletion, losing only the region of the EIF6 gene (only one red signal, above). The a-CGH profile of patient 13 with a tiny del(20)(q), and a cut-out of Q-banded chromosomes 20 in which the deletion, although small, is large enough to be detected (e). The precise delineation of the anomalies is summarized in Table 1