title: Loss of telomeric sequences in a ring derived from chromosome 8 in refractory anemia with excess of blasts in transformation.
abstract: Using the fluorescence in situ hybridization technique, we analyzed a ring chromosome that appeared as a karyotype evolution in a patient affected by refractory anemia with excess of blasts in transformation. Metaphases hybridized with a chromosome-8-specific centromeric probe indicated that the ring retained the centromere of chromosome 8. Successively, utilizing a probe specific for all human telomeres, we observed that the ring lost telomeric sequences. This study demonstrated that the formation of a ring chromosome in hematologic disorders can cause loss of genetic material not revealed by banding techniques and therefore providing further proof of the advantages of molecular cytogenetic techniques.
authors.affiliation: Department of Internal Medicine, University of Genoa, Italy.
authors.forename: G
authors.initials: G
authors.lastname: Fugazza
authors.forename: R
authors.initials: R
authors.lastname: Bruzzone
authors.forename: M
authors.initials: M
authors.lastname: Sessarego
mesh_terms: D000368:Aged; D000754:Anemia, Refractory, with Excess of Blasts / Q000235:genetics*; D002872:Chromosome Deletion; D002898:Chromosomes, Human, Pair 8; D006801:Humans; D008297:Male; D012303:Ring Chromosomes; D016615:Telomere