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

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

Research output: Contribution to journalArticle

18 Citations (Scopus)

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

Fingerprint

Chromosomes, Human, Pair 9
Centromere
Genetic Markers
Fluorescence In Situ Hybridization
Centromere Protein B
Chromosome Painting
Viverridae
Mitosis
Constriction
Proteins

Keywords

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

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

An apparently acentric marker chromosome originating from 9p with a functional centromere without detectable alpha and beta satellite sequences. / Vance, Gail; Curtis, C. A.; Heerema, N. A.; Schwartz, S.; Palmer, C. G.

In: American Journal of Medical Genetics, Vol. 71, No. 4, 05.09.1997, p. 436-442.

Research output: Contribution to journalArticle

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AU - Curtis, C. A.

AU - Heerema, N. A.

AU - Schwartz, S.

AU - Palmer, C. G.

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