Figure 1.

(a) Front and lateral view of the patient at the age of 4 and a half years. Note esotropia of the left eye, flaring of the proximal part of the eyebrows, bulbous tip of the nose with large nostrils, wide mouth with long philtrum, eversion of the lower lip and full cheeks, (b) FISH results from the patient, revealing 2 green spots (indicated by doted and vertical arrows) corresponding to the centromeric control probe (pZ8.4) and 3 red spots (indicated by full and horizontal arrows) corresponding to 8q12.2 region (probe RP11-33I11 encompassing the CHD7 gene), and (c) schematic representation of the three 8q12 duplications reported in the literature. Note that the minimal critical region (delineated by the black vertical bars) contains only 4 genes namely CA8, RAB2, RLBP1L1 and CHD7. Note also the distance between the minimal critical region and the CPA6 gene corresponding to the DRS locus located at 8q13.2. The color reproduction of this figure is available at the European Journal of Human Genetics online.