title: Familial neurofibromatosis microdeletion syndrome complicated by rhabdomyosarcoma.
abstract: Neurofibromatosis type 1 with dysmorphism and developmental delay is reported in a mother and two children. The son required treatment for a prostatic rhabdomyosarcoma. His sister has an optic pathway glioma. Fluorescence in situ hybridisation confirmed a submicroscopic deletion at 17q11.2. New evidence suggests an increased malignancy frequency in microdeletion cases.
authors.affiliation: Institute of Human Genetics, International Centre for Life, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK. anne.lampe@ncl.ac.uk
authors.forename: A K
authors.initials: AK
authors.lastname: Lampe
authors.forename: G
authors.initials: G
authors.lastname: Seymour
authors.forename: P W
authors.initials: PW
authors.lastname: Thompson
authors.forename: A
authors.initials: A
authors.lastname: Toutain
authors.forename: S A
authors.initials: SA
authors.lastname: Lynch
mesh_terms: D000328:Adult; D002675:Child, Preschool; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D006801:Humans; D007223:Infant; D008297:Male; D009456:Neurofibromatosis 1 / Q000150:complications / Q000235:genetics*; D012208:Rhabdomyosarcoma / Q000150:complications / Q000235:genetics*