Representative results of the FISH analyses. 1. 1, patient 1153; 1 Representative results of the FISH analyses. 1.1, patient 1153; 1.2, patient 1190; 1.3, patient 1221. Representative results of the FISH analyses. 1.1, patient 1153; 1.2, patient 1190; 1.3, patient 1221. The COPS3 locus (red) is deleted on one chromosome 17 (del 17). The chromosome 17 centromeric locus (green) is present on both homologues. 1.4, patient 990. Interphase FISH shows a duplication of COPS3 on one homologue (dup 17). The COPS3 BACs were labelled with digoxigenin and detected with anti-digoxigenin conjugated to rhodamine, which fluoresced red. The centromeric probe was purchased labelled with biotin (Vysis Inc, Downers Grove, IL) and detected with avidin conjugated to FITC, which fluoresced green. Lorraine Potocki et al. J Med Genet 2000;37:428-433 ©2000 by BMJ Publishing Group Ltd