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 5 is a 34-year-old man, the third child of healthy non-consanguineous parents (patient 16 from the study of De Rocker et al). He was born at term. Birth weight was 3750 g (75th). He had intellectual disability, speech delay and epilepsy. On examination at age 34 years, height was 150 cm (3rd centile) and head circumference 53 cm (3rd centile, corrected for height). He had facial dysmorphism: microretrognathia, short philtrum and mild trigonocephaly. Scoliosis and cryptorchidism were also noted. CGH was reported as arr 2p25(2231163–8300707)(hg 19)x1 with deletion of the SOX11 and MYT1L genes. This was paternally inherited; a detailed phenotypic description of the father was not available, but he was reported to be epileptic and had intellectual disability and speech delay.