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.
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.