title: Identification of multiple copies of a 20q-chromosome in a case of myelodysplastic syndrome: a FISH study.
abstract: In myelodysplastic syndromes (MDS) karyotypic aberrations identify subgroups of patients with distinct clinical-morphological features and can be relevant in risk assessment of developing leukemia. Often conventional cytogenetic analysis is not sufficiently informative due to the presence of partially or completely unrecognizable chromosome markers. By chromosome microdissection (MD) and fluorescence in situ hybridization (FISH) we investigated the nature of a karyotypic marker occurring in multiple copies in one case of MDS arisen in a patient previously treated for breast cancer. Results showed dicentrics derived from telomeric fusion between interstitially deleted 20q-chromosomes. The abnormal karyotype resulted into polysomy for a deleted chromosome 20q.
authors.affiliation: Hematology and Bone Marrow Transplantation Unit, University of Perugia, Policlinico Monteluce, Italy.
authors.forename: D
authors.initials: D
authors.lastname: Falzetti
authors.forename: J R
authors.initials: JR
authors.lastname: Vermeesch
authors.forename: T L
authors.initials: TL
authors.lastname: Hood
authors.forename: E P
authors.initials: EP
authors.lastname: Nacheva
authors.forename: C
authors.initials: C
authors.lastname: Matteucci
authors.forename: M F
authors.initials: MF
authors.lastname: Martelli
authors.forename: H
authors.initials: H
authors.lastname: Van den Berghe
authors.forename: P
authors.initials: P
authors.lastname: Marynen
authors.forename: C
authors.initials: C
authors.lastname: Mecucci
mesh_terms: D000368:Aged; D002869:Chromosome Aberrations; D020223:Chromosome Painting; D002890:Chromosomes, Human, Pair 20; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D009190:Myelodysplastic Syndromes / Q000235:genetics*