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 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.