Supplementary Material for: Fast Approach for Clarification of Chromosomal Aberrations by Using LM-PCR and FT-CGH in Leukaemic Sample

Chromosomal abnormalities, like deletions, amplifications, inversions or translocations, are recurrent features in haematological malignancies. However, the precise molecular breakpoints are frequently not determined. Here we describe a rapid analysis of genetic imbalances combining fine tiling comparative genomic hybridization (FT-CGH) and ligation-mediated PCR (LM-PCR). We clarified an inv(14)(q11q32) in a case of T cell acute lymphoblastic leukaemia with a breakpoint in the <i>TRA/D</i> in 68% of cells detected by fluorescence in situ hybridization. FT-CGH showed several mono- and biallelic losses within <i>TRA/D</i>. LM-PCR disclosed a <i>TRA/D</i> rearrangement on one allele. The other allele revealed an inv(14)(q11q32), joining <i>TRDD2</i> at 21,977,000 of 14q11 together with the <i>IGH</i> locus at 105,948,000 and 3′-sequence of <i>TRAC</i> at 22,092,000 joined together with <i>IGHV4–61</i> at 106,166,000. This sensitive approach can unravel complex chromosomal abnormalities in patient samples with a limited amount of aberrant cells and may lead to better diagnostic and therapeutic options.