Case 7 is a 2-year-old girl, the first child of healthy non-consanguineous parents. She was born at 39 weeks of gestation by elective caesarean section. Birth weight was 3.5 kg (50th). There were feeding difficulties and poor weight gain in the first month of life. This resulted in hospital admission. Gastro-oesophageal reflux was diagnosed and the feeding difficulties resolved with gaviscon. At this time generalised hypotonia was noted. There was a history of mild gross motor delay; she first sat independently at 10 months and walked at 15 months. At the age of 2 years, she had begun to run. There were no concerns relating to fine motor skills. There was mild speech delay; at the age of 2 years, she was not producing two word phrases. She was physically well. On examination her head circumference was 47 cm (50th centile) and weight 10 kg (2nd centile). She had deep set eyes, full cheeks and thick lips. There was sparse scalp hair. She had bilateral fifth finger clinodactyly and hypoplasia of the nails of the fifth fingers and toes. CGH was reported as arr2p25.2(5166592–6400126)(hg19)x1. Only the SOX11 gene was deleted, and it was not possible to test parental samples.
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.