Interstitial deletion of chromosome 17 (del(17)(q22q23.3)) confirms a link with oesophageal atresia

Editor—There have been five previously described cases with a de novo interstitial deletion within the distal long arm of chromosome 17.1-5 We describe a sixth case, 46,XY,del(17)(q22q23.3)de novo. Three patients, including the proband in this report, presented with tracheo-oesophageal fistula (TOF)/oesophageal atresia, highlighting a potential genetic locus for this significant congenital anomaly. The patient was born at 32 weeks' gestation by Caesarean section for fetal distress and intrauterine growth retardation. The liquor volume was low. He was the first child of a 20 year old mother and 22 year old father who were non-consanguineous and healthy. The birth weight was 1420 g (9th centile) and head circumference was 27 cm (2nd centile). Apgar scores were 7 at one minute and 9 at five minutes. The patient was noted to be dysmorphic at birth and oesophageal atresia was diagnosed at 2 days of age (fig 1). The patient had a small fontanelle, a sloping forehead with wrinkled skin, a round facial appearance, hypertelorism, small eyes with upward slanting palpebral fissures, a broad nasal tip with a short philtrum, a downturned mouth, and thin lips. His palate and ears were normal. He had small nails, proximally placed thumbs, and a deep crease between his first and second toes. He had knee contractures and a fixed flexion deformity of his hips. There was …