Case 3 is a 14-year-old girl, the first child of healthy non-consanguineous parents. She was born at 37 weeks of gestation. Birth weight was 2840 g (9th centile) and head circumference 33 cm (2nd centile). She had a weak suck and difficulty feeding in the neonatal period. She first walked at the age of 20 months. Her fine motor skills were impaired. She had no speech delay. At 14 years old, her height was 158 cm (50th) and head circumference was 52 cm (<2nd). She was dysmorphic with a high forehead, narrow palpebral fissures, a smooth philtrum, micrognathia and a high arched palate. A scoliosis, inverted nipples, bilateral fifth finger clinodactyly and 2–3 toe syndactyly were noted. CGH was reported as arr 2p25(5838893–7023548)(hg 19)x1. The deletion included SOX11, RSAD2 and CMPK2 genes. The deletion was not found in the mother. The father was not available for testing.
Case 6 is a 13-year-old girl, ascertained via DECIPHER with limited information. She was born at term. She presented as an infant with feeding difficulties, microcephaly and seizures. CGH was reported as arr2p25(5209876–8078809)(hg 19)x1 with deletion of SOX11, RSAD2, CMPK2 and RNF144A. It was not possible to test parental samples.