Figure 2

Molecular cytogenetic results in Cases 1 to 3. Case 1 (A): The BAC array CGH result, which confirmed the MLPA findings, displayed with BlueFuse software and showing the region of copy number gain at 8p23.1 (green bar to the right of the idiogram); Case 2 (B-E): (B) the larger metaphase signals (arrowed) from the 8p23.1 BACs RP11-211C9 (red) and RP11-589N15 (green) and (C) the enhanced signal strength from BAC RP11-211C9 (red) at metaphase (single red arrow) and the duplicated signals at interphase (double red arrows) (note, the green signals are from BAC CTD-2629I168 and the 8 centromere which both had normal copy number); (D) the normal results from BAC RP11-594D21 (red) in distal REPD and a control BAC RP11-410N18 from 8p23.3 (green); (E, left hand pairs) the duplicated signals (vertical arrows) from BACs RP11-351I21 (red) in REPP and RP11-1118M6 (green) in REPD from the fetus and (E, right hand pairs) the normal copy in the mother. Case 3 (F-H): (F) the enhanced metaphase signal strength (red and green arrows) from the REPD BACs RP11-122N11 (red) and RP11-589N15 (green) note, (the additional red signals are from the 8 centromere); (G) the duplicated metaphase signals (single green arrow) from BAC RP11-211C9 (green) and (H) at prometaphase (red and green arrows) from BAC RP11-24D9 (red) in REPP from BAC RP11-589N15 (green).