Figure 2

Proband’s chromosome 11 genotype (A) NimblegenHuman CGH 3 × 720 K Whole-Genome Tiling array profile of proband’s chromosomes 11. The homozygously deleted segment is pinpointed by a red arrow (B) Chromosomal position (top, marked by red box) and extents (bottom, red rectangles) of the homozygote deletion identified in the proband (top) and the heterozygote deletion described in a patient affected by Primrose syndrome [17] (bottom) in the UCSC genome browser. Both rearrangements encompass the Fibin and BBOX1 genes (GENCODE genes indicated in blue at the bottom of the panel [19]). The positions of the amplimers used to confirm the array CGH results are indicated by ticks (153P2-153P4). (C) Relative DNA amount was quantified by QPCR at human chromosome 11 loci defined in panel (B) for the proband, her mother and father, as well as an unaffected control. Data from three amplification reactions are represented as mean ± S.D.