The characterization of chromosomal rearrangements by a combined micro-FISH approach in a patient with myelodysplastic syndrome

We report the application of a combined strategy: chromosome microdissection, degenerate oligonucleotide primed-PCR, and reverse chromosome painting (micro-FISH), as well as forward chromosome painting, for the characterization of chromosomal rearrangements in a MDS patient with the karyotype 46,XX,−11,+r analyzed by G-banding. The karyotype was refined as 46,XX,der(2)t(2;11) (q35;?p13),der(11)dic r(11)(:p13→q13::p13→q13:). Our study demonstrated that the chromosome composition of a neoplasia can be identified more systematically and accurately using these combined molecular cytogenetic approaches. The DOP-PCR methodology modified is suitable for the practical application of micro-FISH on specimens prepared for routine banding analysis.