Figure 4

FISH analysis of the mother using a probe (labeled red) specific for DiGeorge Syndrome critical region (TUPLE) and schematic representation of the corresponding breakpoints on chromosomes 15 and 22. A. A red signal together with a green signal (subtelomere specific) can be seen on the normal chromosome 22. However in the homologous chromosome 22 only one green signal can be seen, while the red signal is translocated on to a chromosome of the D group depicting that the mother bears a cryptic translocation. B. An ideogram scheme of the breakpoints (red arrows) on chromosomes 15 and 22 that resulted in a balanced translocation in the mother.