Chromosome and FISH results. On the right side fetus (amciocytes) and left side mother (lymphocytes). All FISH probes were from Vysis-Abbott. (a) Karyogram images of chromosomes 17 and 19. Both the fetus and the mother have additional material in chromosome 19p. The fetus has normal chromosomes 17 but the mother has a deletion in one chromosome 17p indicating that she is a carrier of a potentially balanced translocation. (b) Chromosome painting with a wcp19 probe shows a small unpainted terminal region on chromosome 19p (arrowhead). (c) MDS microdeletion specific probe (17p13.3-red/LIS1-gene and 17q21-green/RARA-gene) for the fetus and the mother. An extra red signal is seen on the der(19) chromosome both in the fetus and in the mother (1x arrowhead). In the mother the Miller Dieker syndrome specific probe shows MDS probe on der(19) and the control probe on der(17). 2x arrowheads point to the der(17) of the mother that lacks the MDS probe signal. (d) Simultaneous hybridization with MDS probe and subtelomere probe set for chromosome 19 (19p/19p13/19q, ToTelVysion, Vysis-Abbott) shows the order of these probes indicating that the MDS region has been translocated/inserted distal to the 19p subtelomere region in the der(19). (Mixtures 8 and 14 were applied from ToTelVysion probe kit, which are specific for chromosome 17p subtel/17cep and 19p subtel/19p13/19q, respectively). (e) Ideogram images of chromosomes 17 and 19. FISH probes are marked from p arm to q arm with different colour (17p13.3/red-19ptel/green-19p13/aqua-19qtel/red).
