A CYTOGENETIC DELETION, DEL(17)(Q11.22Q21.1), IN A PATIENT WITH SPORADIC NEUROFIBROMATOSIS TYPE-1 (NF1) ASSOCIATED WITH DYSMORPHISM AND DEVELOPMENTAL DELAY

We report the first visible cytogenetic deletion involving the NF1 gen e in a patient with sporadic neurofibromatosis, dysmorphic features, a nd marked developmental delay. The combined evidence of molecular and cytogenetic techniques based on dosage reduction, hemizygosity for mic rosatellite markers, high resolution G banding, and FISH analysis, pre dicts this deletion to be approximately 7 Mb in size. Our findings hig hlight the importance of conducting a detailed cytogenetic and FISH an alysis in patients with NF1 who have additional dysmorphic features or particularly severe learning difficulties.