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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 NF1 who have additional dysmorphic features or particularly severe learning difficulties.

Original publication




Journal article


J Med Genet

Publication Date





148 - 152


Cells, Cultured, Chromosome Banding, Chromosome Deletion, Chromosomes, Human, Pair 17, Genes, Neurofibromatosis 1, Humans, In Situ Hybridization, Fluorescence, Infant, Newborn, Intellectual Disability, Male, Microsatellite Repeats, Neurofibromatosis 1, Phenotype