title: Fluorescence in situ hybridization reveals trisomy 2q by insertion into 9p in hepatoblastoma.
abstract: Cytogenetics and fluorescence in situ hybridization (FISH) of a hepatoblastoma are presented. The results of standard chromosome analysis were as follows: 47,XY,+2,add(4)(q35),-9,+20[10]. FISH with the use of whole-chromosome paints revealed partial trisomy of the long arm of chromosome 2 by insertion into chromosome 9. Comparison of the G-banded metaphases with metaphase FISH led to a reinterpretation of the karyotype as: 47,XY,add(4)(q35),der(9)ins(9;2)(p22;q?21q?25),+20. This case supports previous observations that the critical region of trisomy 2 lies between 2q21 and 2qter and shows how partial trisomy 2q may evade detection in G-banded metaphases.
authors.affiliation: Department of Pediatrics, University Medical School, Debrecen, Hungary.
authors.forename: E
authors.initials: E
authors.lastname: Balogh
authors.forename: S
authors.initials: S
authors.lastname: Swanton
authors.forename: C
authors.initials: C
authors.lastname: Kiss
authors.forename: Z S
authors.initials: ZS
authors.lastname: Jakab
authors.forename: L M
authors.initials: LM
authors.lastname: Secker-Walker
authors.forename: E
authors.initials: E
authors.lastname: Oláh
mesh_terms: D002675:Child, Preschool; D002871:Chromosome Banding; D002889:Chromosomes, Human, Pair 2; D002899:Chromosomes, Human, Pair 9; D018197:Hepatoblastoma / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008113:Liver Neoplasms / Q000235:genetics*; D008297:Male; D014314:Trisomy