An apparently acentric marker chromosome originating from 9p with a functional centromere without detectable alpha and beta satellite sequences

Am J Med Genet. 1997 Sep 5;71(4):436-42. doi: 10.1002/(sici)1096-8628(19970905)71:4<436::aid-ajmg13>;2-h.


Recently, we studied a patient with minor abnormalities and an apparently acentric marker chromosome who carried a deleted chromosome 9 and a marker chromosome in addition to a normal chromosome 9. The marker was stable in mitosis but lacked a primary constriction. The origin of the marker was established by fluorescent in situ hybridization (FISH) using a chromosome 9 painting probe. Hybridization of unique sequence 9p probes localized the breakpoint proximal to 9p13. Additional FISH studies with all-human centromere alpha satellite, chromosome 9 classical satellite, and beta satellite probes showed no visible evidence of these sequences on the marker [Curtis et al.: Am J Hum Genet 57:A111, 1995]. Studies using centromere proteins (CENP-B, CENP-C, and CENP-E) were performed and demonstrated the presence of centromere proteins. These studies and the patient's clinical findings are reported here.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Autoantigens / analysis
  • Centromere Protein B
  • Centromere*
  • Chromosomal Proteins, Non-Histone / analysis
  • Chromosome Banding
  • Chromosome Deletion*
  • Chromosome Mapping
  • Chromosomes, Human, Pair 9*
  • DNA, Satellite / chemistry
  • DNA, Satellite / genetics*
  • DNA-Binding Proteins*
  • Female
  • Genetic Markers
  • Humans
  • In Situ Hybridization, Fluorescence
  • Infant
  • Karyotyping
  • Male


  • Autoantigens
  • CENPB protein, human
  • Centromere Protein B
  • Chromosomal Proteins, Non-Histone
  • DNA, Satellite
  • DNA-Binding Proteins
  • Genetic Markers
  • centromere protein C
  • centromere protein E