PMC9618691_01
Bone marrow karyotype showing 48, XY, +13, +19[12]/48, idem, del(p12)[8].
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F1
Cytogenetic analysis revealed that the chromosome karyotype was complex, representing 48, XY, +13, +19[12]/48, idem, del(p12)[8] (Figure 1).
Schematic representation of BCORL1 and GNB1 mutations. (A) The mutations of BCORL1 in AML. (B) The mutations in Exon 7 of the GNB1 gene.
fped-10-993952-g002.jpg
PMC9618691_01_fped-10-993952-g002.jpg
F2
It has been reported that 26 different types of BCORL1 mutations were described (Figure 2A).