Figure 2
Case 5: aCGH shows a gain of 5p13.3q11.2(32,731,799–55,802,261)×?2.3 of size 23.1 Mb in ~30% of cells (arrow). Of note is that gain of this region is pathogenic and associated with a 5p13 duplication syndrome in the OMIM phenotype track. A small and nonsatellited marker chromosome appears ring-like in G- and C-banding (arrows). FISH confirmation showed a 5p13.1 signal on the marker (arrow). Case 6: aCGH shows gain of the short arm of chromosome 18:14,316–14,220,766 of size 14.2 Mb. A G-band monosatellited marker (arrow) is positive for AgNOR-staining (arrow). FISH shows the marker is 18ptel-positive (arrow) and negative for 18 centromere (arrow) using telomere 11p/11q/18p and CEP18 probes. Case 7: aCGH shows a gain of 19p13.2p13.12(9.647,931–14,875,098)×2.2?. A G-banded, CBG+ and AgNOR+ stained marker (arrow). FISH using RP11-360D23 [SO](19p13.2) and D19Z3 [SG](19 centromere) hybridized to the two normal 19 chromosomes (arrowhead) and only RP11-360D23 hybridized to the marker (arrow). Probe RP11-692L20 (14q11.1) hybridized to the marker (arrow) and control RP11-945H24 (14q23.2) probe was on the normal 14s but not on the marker.
