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. 2010 Nov 10;19(3):247–252. doi: 10.1038/ejhg.2010.174

Figure 2.

Figure 2

MLPA results of FBN1 in mother and daughter (patient 2) compared with healthy control (MLPA kit P065, MRC-Holland). The control probes are normalized to two copies. The probe signals for FBN1 relative to control probes and TGFBR2 probes show a single copy for FBN1 in patient 2. All other patients discussed in this paper show MLPA results comparable with patient 2. The healthy mother of patient 2 has reduced probe signals for all FBN1 probes, indicative of somatic mosaicism for the deletion. The mean (±SD) signals for all FBN1 probes were: 1.93±0.08 (control), 1.08±0.08 (case 2) and 1.71±0.05 (mosaic mother; P<10−15 compared with control, according to a two-tailed t-test). The color reproduction of this figure is available on the html full text version of the manuscript.