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. 2009 Mar;123(1-4):65–78. doi: 10.1159/000184693

Fig. 3.

Fig. 3.

Confirmatory studies of duplications. (a) FISH confirmation in Case 1, showing duplication of BAC probes RP11-962B7 (green) and RP11-159K3 (red). (b) FISH in Case 1. Cohybridization of RP11-962B7 and RP11-159K3, demonstrating a tandem, directly oriented duplication. (c) FISH in Case 1, showing two copies of the 3q subtelomeric probe (green). (d) FISH confirmation in Case 3, showing duplication of probe CTC-196F4 (red) but not of control probe GS-1186B18 (green). (e) MLPA confirmation in Case 3 and family members. The MLPA probe in the NCBP2 gene shows a 3:2 ratio in the proband, the father and both brothers, while the control probes located elsewhere in the genome show a normal 2:2 ratio. The mother shows no duplication of the NCBP2 MLPA probe.