title: Germline duplication of chromosome 2p and neuroblastoma.
abstract: A child with a germline duplication of chromosome 2p, 46,XY,der(13)t(2;13)(p23;q34), who developed a fatal neuroblastoma confirmed at necropsy is reported. Fluorescent in situ hybridisation studies showed chromosome 2p (p23-pter) duplicated on chromosome 13 (q34). The clinical features of the present case shared many similarities to previous reports of trisomy 2p and there have been two cases described with neuroblastoma. Germline duplication of chromosome 2p including the N-myc proto-oncogene may have pre-disposed to the development of neuroblastoma in this case.
authors.affiliation: Department of Medical Genetics, Addenbrooke's NHS Trust, Cambridge, UK.
authors.forename: J S
authors.initials: JS
authors.lastname: Patel
authors.forename: J
authors.initials: J
authors.lastname: Pearson
authors.forename: L
authors.initials: L
authors.lastname: Willatt
authors.forename: T
authors.initials: T
authors.lastname: Andrews
authors.forename: R
authors.initials: R
authors.lastname: Beach
authors.forename: A
authors.initials: A
authors.lastname: Green
mesh_terms: D002882:Chromosomes, Human, Pair 13; D002889:Chromosomes, Human, Pair 2; D018095:Germ-Line Mutation; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D008297:Male; D005810:Multigene Family; D009447:Neuroblastoma / Q000235:genetics*; D000090063:Proto-Oncogene Mas; D012189:Retrospective Studies