Fig. 1.

Frequency of the most common clinical features seen in patients with a 22q11.2 deletion and patients with a CHD7 mutation. Frequency is depicted as number of patients with feature/number of patients investigated; data is based on 943 patients from Children's Hospital of Philadelphia Database for 22q11.2 deletion group and on 280 patients indentified at the Radboud University Nijmegen Medical Centre (Nijmegen, The Netherlands) with a CHD7 mutation as described in Bergman et al. [2011b]. TE anomaly = Tracheo-oesophageal anomaly. ^a In 22q11.2 deletion group only tracheo-oesophageal fistula. ^b Including 28 patients with hypospadias in 22q11.2 deletion group. ^c 148 patients in 22q11.2 deletion group had a submucosal cleft. ^d Height <2.5 SD in CHD7 cohort or below 5th percentile in 22q11.2 deletion cohort.