title: A functional marker centromere with no detectable alpha-satellite, satellite III, or CENP-B protein: activation of a latent centromere?
abstract: We report the investigation of an unusual human supernumerary marker chromosome 10 designated "mar del(10)." This marker is present together with two other marker chromosomes in the karyotype of a boy with mild developmental delay. It has a functional centromere at a primary constriction and is mitotically stable. Fluorescence in situ hybridization (FISH) using alpha-satellite and satellite III DNA as probes failed to detect any signal at the primary constriction site. CENP-B protein could not be demonstrated, although the presence of at least some centromeric proteins was confirmed using a CREST antiserum. Consideration of these and other cytogenetic and FISH results supports a mechanism of formation of the mar del(10) chromosome involving the activation of a latent intercalary centromere at 10q25.
authors.affiliation: Murdoch Institute for Research into Birth Defects, Royal Children's Hospital, Parkville, Victoria, Australia.
authors.forename: L E
authors.initials: LE
authors.lastname: Voullaire
authors.forename: H R
authors.initials: HR
authors.lastname: Slater
authors.forename: V
authors.initials: V
authors.lastname: Petrovic
authors.forename: K H
authors.initials: KH
authors.lastname: Choo
mesh_terms: D000906:Antibodies / Q000276:immunology; D001324:Autoantigens; D002478:Cells, Cultured; D002503:Centromere / Q000276:immunology; D051936:Centromere Protein B; D002675:Child, Preschool; D002868:Chromosomal Proteins, Non-Histone / Q000032:analysis*; D002879:Chromosomes, Human, Pair 10; D015342:DNA Probes; D004276:DNA, Satellite / Q000032:analysis*; D004268:DNA-Binding Proteins; D002658:Developmental Disabilities / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D009006:Monosomy
chemical_list: D000906:Antibodies; D001324:Autoantigens; C497926:CENPB protein, human; D051936:Centromere Protein B; D002868:Chromosomal Proteins, Non-Histone; D015342:DNA Probes; D004276:DNA, Satellite; D004268:DNA-Binding Proteins