An apparently acentric marker chromosome originating from 9p with a functional centromere without detectable alpha and beta satellite sequences
✍ Scribed by Vance, G. H.; Curtis, C. A.; Heerema, N. A.; Schwartz, S.; Palmer, C. G.
- Publisher
- John Wiley and Sons
- Year
- 1997
- Tongue
- English
- Weight
- 60 KB
- Volume
- 71
- Category
- Article
- ISSN
- 0148-7299
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✦ Synopsis
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.