title: Breakpoint within the nucleolus organizer region resulting in a reciprocal translocation t (4;14)(q21;p12).
abstract: Reciprocal translocations involving a break in the nucleolus organizer region (NOR) are rare. A balanced translocation in a mother and her fetus with breakpoints in the NOR at 14p12 and on the long arm of a chromosome 4 at band 4q21 is described. The rearrangement was characterized by Ag-NOR staining, multiplex fluorescence in situ hybridization (M-FISH), and FISH with rDNA probes. This and other cases with breakpoints within NORs are discussed.
authors.affiliation: Institut für Anthropologie und Humangenetik, LMU München, Munich, Germany.
authors.forename: M
authors.initials: M
authors.lastname: Grabowski
authors.forename: C
authors.initials: C
authors.lastname: Fauth
authors.forename: A
authors.initials: A
authors.lastname: Wirtz
authors.forename: M R
authors.initials: MR
authors.lastname: Speicher
mesh_terms: D000328:Adult; D002871:Chromosome Banding; D019457:Chromosome Breakage / Q000235:genetics*; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics*; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics*; D005260:Female; D005333:Fetus / Q000378:metabolism; D005865:Gestational Age; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods; D009697:Nucleolus Organizer Region / Q000235:genetics*; D011247:Pregnancy; D014178:Translocation, Genetic