Figure 1.

Family pedigree, arrow indicates index patient. Carriers of the 22q11.1q11.21 triplication are indicated with an asterisk (^*). Untested family members are indicated with a question mark and ‘N' stands for ‘not a carrier' of the triplication. Individuals with a non-filled symbol have no phenotypic characteristics of CES. A black upper-right quadrant stands for anal malformation, the black upper-left quadrant stands for preauricular anomalies, the black lower-right quadrant stands for renal anomalies and the black lower left quadrant stands for deafness. The uncle of the index patient also had idiopathic growth hormone deficiency; this is not indicated in this figure.