De novo interstitial deletion in the long arm of chromosome 9: A new chromosome syndrome

Abstract

An infant with an interstitial deletion 46,XY,del(9)(pter→q22::q32→qter) is described. Clinical features included abnormal craniofacies with hypertelorism, narrow palpebral fissures, sclerocornea, deep vertical groove, and supraorbital ridge hypoplasia. There was unilateral preaxial polydactyly and toe syndactyly. Generalised hirsutism was noted. The infant had surgery for duodenal atresia but died at the age of 3 months. Unilateral renal dysplasia and accessory spleens were found at necropsy.