title: A cytogenetic deletion, del(17)(q11.22q21.1), in a patient with sporadic neurofibromatosis type 1 (NF1) associated with dysmorphism and developmental delay.
abstract: 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.
authors.affiliation: Institute of Medical Genetics, University Hospital of Wales Cardiff, UK.
authors.forename: M
authors.initials: M
authors.lastname: Upadhyaya
authors.forename: S H
authors.initials: SH
authors.lastname: Roberts
authors.forename: J
authors.initials: J
authors.lastname: Maynard
authors.forename: E
authors.initials: E
authors.lastname: Sorour
authors.forename: P W
authors.initials: PW
authors.lastname: Thompson
authors.forename: M
authors.initials: M
authors.lastname: Vaughan
authors.forename: A O
authors.initials: AO
authors.lastname: Wilkie
authors.forename: H E
authors.initials: HE
authors.lastname: Hughes
mesh_terms: D002478:Cells, Cultured; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics* / Q000648:ultrastructure; D016514:Genes, Neurofibromatosis 1; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D018895:Microsatellite Repeats; D009456:Neurofibromatosis 1 / Q000235:genetics*; D010641:Phenotype