An apparently acentric marker chromosome originating from 9p with a functional centromere without detectable alpha and beta satellite sequences.
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.
Vance
G H
GH
Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis 46202-5251, USA.
Curtis
C A
CA
Heerema
N A
NA
Schwartz
S
S
Palmer
C G
CG
D000015:Abnormalities, Multiple / Q000235:genetics*; D001324:Autoantigens / Q000032:analysis; D002503:Centromere; D051936:Centromere Protein B; D002868:Chromosomal Proteins, Non-Histone / Q000032:analysis; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D002899:Chromosomes, Human, Pair 9; D004276:DNA, Satellite / Q000737:chemistry / Q000235:genetics*; D004268:DNA-Binding Proteins; D005260:Female; D005819:Genetic Markers; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007621:Karyotyping; D008297:Male
D001324:Autoantigens; C497926:CENPB protein, human; D051936:Centromere Protein B; D002868:Chromosomal Proteins, Non-Histone; D004276:DNA, Satellite; D004268:DNA-Binding Proteins; D005819:Genetic Markers; C060905:centromere protein C; C068688:centromere protein E