(NFl) associated with dysmorphism and developmental delay
نویسندگان
چکیده
We report the first visible cytogenetic deletion involving the NF1 gene in a patient with sporadic neurofibromatosis, dysmorphic features, and marked developmental delay. The combined evidence of molecular and cytogenetic techniques based on dosage reduction, hemizygosity for microsatellite markers, high resolution G banding, and FISH analysis, predicts this deletion to be approximately 7 Mb in size. Our findings highlight the importance of conducting a detailed cytogenetic and FISH analysis in patients with NFl who have additional dysmorphic features or particularly severe learning difficulties. (J7Med Genet 1996;33:148-152)
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