Case 4 is a 25-year-old woman, the third child of healthy non-consanguineous parents. Pregnancy was complicated by reduced fetal movements. Birth weight was 3130 g (25th centile). Choanal stenosis and persistent ductus arteriosus were present in the neonatal period. She first walked at 4 years and spoke at 3 years old. At the age of 25 years old, her height was 162 cm (25th centile), weight 50 kg (10th centile) and head circumference 49 cm (<0.4th centile). She has severe intellectual disability and aggressive behaviour. She is physically well but has hypermetropia. She has a flat face with upslanting palpebral fissures and wide mouth with thick lips. Short second fingers with bilateral fifth finger clinodactyly was present along with skin syndactyly of toes 2–3 and 4–5. CGH was reported as arr 2p25(5535091–16398225)(hg 19)x1 with deletion of SOX11 and MYCN. The deletion was not found in either parent.
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.