Figure 4

FISH analysis of PWS/AS patients with 15q11-q13 deletions. The chromosome 15-specific probe was labeled in green and BAC clones 26F2 and 289D12 were labeled in red. For (A), (B), (C), (D), (G), (H), (I,) and (J), the green and red signals were superimposed, while for (E), (F), (G'), (H'), (I'), and (J'), only the red signal was analyzed. BAC clone 289D12 was used as a probe for the images in the left column (A, C, E, G, G', I and I'), and BAC clone 26F2 was used as a probe for the images in the right column (B, D, F, H. H', J and J'). Three AS patients (AS-1, AS-2, and AS-3) and two PWS patients (PWS-1 and PWS-2) known to have large deletions of the 15q11-q13 region were analyzed; data for one PWS patient (PWS-1) is shown. Hybridization results for patient AS-1 are shown in (A) and (B), and for patient AS-2 in panels (C), (D), (E), and (F). Hybridization results for patient AS-3 are shown in (G), (G'), (H), and (H'), and panels (I), (I'), (J), and (J') are for patient PWS-1. For patient AS-1 in (A) and (B), signals for both BAC 26F2 and BAC 289D12 were seen on both chromosomes, indicating that the deletion is likely to be a class II deletion in this patient. For patient AS-2, the signals were absent for both BAC 26F2 and BAC 289D12 on one chromosome 15 as seen in (C) and (D), but a very dim red signal was seen for BAC 26F2 in one chromosome (F) when the red signal was analyzed separately which supports a partial deletion of 26F2 in these patients. Similar results were also seen for patients AS-3(G, G', H, and H') and PWS-1 (I, I', J and J').