Fig. 2

High-resolution molecular cytogenetic analysis of the patient. a, b Comparative genomic hybridization using Agilent 60 K microarray. a The chromosome 18 view; oligonucleotides with log2 ratio ~ −1 (red dots, red rectangles) indicate deleted regions; oligonucleotides with log2 ratio ~ +0.6 (blue dots, blue rectangle) indicate a duplicated region. The boundaries of terminal deletions, a duplication and an interstitial deletion (18q12.1) were defined with high resolution. b The enlarged 18q12.1 region with imported DGV and OMIM databases tracks and genes annotations. The data illustrate the presence of DTNA deletion. c, d Fluorescent in situ hybridization (FISH) on metaphases from cultured peripheral blood lymphocytes. FISH with probes to centromeric (aqua) and subtelomic (yellow) regions of chromosome 18 (ToTelVysion Probe Kit, Abbott/Vysis; the probes to subtelomeric regions of chromosomes 11 and 12 (p – green, q – red) are added in the hybridization mix by the manufacturer). Inserts show the enlarged view of the normal and the ring chromosome 18. The analysis confirmed the deletion of both terminal regions on r(18)