title: dup(1)(q21q32) as a sole cytogenetic event is associated to a leukemic transformation in myelodysplastic syndromes.
abstract: Duplication of the long arm of chromosome 1 (1q) has been detected accompanied with other chromosome abnormalities in Myelodysplastic Syndromes (MDS). However, as a sole karyotypic change, it is rarely observed. We present here two patients affected of a MDS that showed a dup(1)(q21q32) as a sole cytogenetic change in their bone marrow cells. Complementary methodologies confirmed the duplication of chromosome 1q and, did not show additional cryptic chromosome abnormalities. One patient acquired a secondary trisomy 8 and the other one progressed toward an acute leukemia with no additional cytogenetic alterations.
authors.affiliation: Department of Genetics, Hospital Universitari Son Dureta, Andrea Doria 55, 07014 Palma de Mallorca, Illes Balears, Spain.
authors.forename: Ramona
authors.initials: R
authors.lastname: Alfaro
authors.forename: Angeles
authors.initials: A
authors.lastname: Pérez-Granero
authors.forename: Maria Antonia
authors.initials: MA
authors.lastname: Durán
authors.forename: Joan
authors.initials: J
authors.lastname: Besalduch
authors.forename: Jordi
authors.initials: J
authors.lastname: Rosell
authors.forename: Marta
authors.initials: M
authors.lastname: Bernués
mesh_terms: D002869:Chromosome Aberrations; D002871:Chromosome Banding; D002878:Chromosomes, Human, Pair 1; D002898:Chromosomes, Human, Pair 8; D005260:Female; D006801:Humans; D007938:Leukemia / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009190:Myelodysplastic Syndromes / Q000235:genetics*; D032681:Spectral Karyotyping; D014314:Trisomy