title: A rare chromosome 5 heterochromatic variant derived from insertion of 9qh satellite 3 sequences.
abstract: A rare chromosome 5 heterochromatic variant not linked to any clinical sign was identified in a three-generation family. After performing conventional cytogenetics characterization, fluorescence in situ hybridization of D9Z1 indicated that the unusually large qh region of chromosome 5 originated from 9qh, whereas the centromere of the variant chromosome was 5-specific as demonstrated by primed in situ DNA labelling. FISH of probes targeting satellite 3 and beta-satellite sequences of 9qh showed that only satellite 3 sequences were present in the variant 5qh region.
authors.affiliation: Departement of Biology and Genetics, Medical Faculty, University of Milan, Italy.
authors.forename: L
authors.initials: L
authors.lastname: Doneda
authors.forename: P
authors.initials: P
authors.lastname: Gandolfi
authors.forename: G
authors.initials: G
authors.lastname: Nocera
authors.forename: L
authors.initials: L
authors.lastname: Larizza
mesh_terms: D000328:Adult; D002675:Child, Preschool; D002895:Chromosomes, Human, Pair 5; D002899:Chromosomes, Human, Pair 9; D003582:Cytogenetics; D017931:DNA Primers; D004276:DNA, Satellite / Q000235:genetics; D014644:Genetic Variation; D006570:Heterochromatin; D006801:Humans; D017404:In Situ Hybridization, Fluorescence
chemical_list: D017931:DNA Primers; D004276:DNA, Satellite; D006570:Heterochromatin