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

G. H. Vance, C. A. Curtis, N. A. Heerema, S. Schwartz, C. G. Palmer

Research output: Contribution to journalArticlepeer-review

18 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)436-442
Number of pages7
JournalAmerican Journal of Medical Genetics
Volume71
Issue number4
DOIs
StatePublished - Sep 5 1997

Keywords

  • Centromere proteins
  • Chromosome 9
  • Fluorescent in situ hybridization
  • Marker chromosome

ASJC Scopus subject areas

  • Genetics(clinical)

Fingerprint Dive into the research topics of 'An apparently acentric marker chromosome originating from 9p with a functional centromere without detectable alpha and beta satellite sequences'. Together they form a unique fingerprint.

Cite this