A functional marker centromere with no detectable alpha-satellite, satellite III, or CENP-B protein: activation of a latent centromere?

Am J Hum Genet. 1993 Jun;52(6):1153-63.


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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Antibodies / immunology
  • Autoantigens*
  • Cells, Cultured
  • Centromere Protein B
  • Centromere* / immunology
  • Child, Preschool
  • Chromosomal Proteins, Non-Histone / analysis*
  • Chromosomes, Human, Pair 10*
  • DNA Probes
  • DNA, Satellite / analysis*
  • DNA-Binding Proteins*
  • Developmental Disabilities / genetics*
  • Humans
  • In Situ Hybridization, Fluorescence
  • Karyotyping
  • Male
  • Monosomy*


  • Antibodies
  • Autoantigens
  • CENPB protein, human
  • Centromere Protein B
  • Chromosomal Proteins, Non-Histone
  • DNA Probes
  • DNA, Satellite
  • DNA-Binding Proteins