title: Unbalanced 1q whole-arm translocation resulting in der(14)t(1;14)(q11-12;p11) in myelodysplastic syndrome.
abstract: Unbalanced whole-arm translocations (WATs) of the long arm of chromosome 1, resulting in complete trisomy 1q, are chromosomal abnormalities detectable in both solid tumors and hematologic neoplasms. Among the WATs of 1q to acrocentric chromosomes, a few patients with der(1;15) described as a dicentric chromosome have been reported so far, whereas cases of der(1;14) are much rarer. We report on a case of der(1;14) detected as single anomaly in a patient with myelodysplastic syndrome. The aim of our work was to investigate the breakpoints of the (1;14) translocation leading to the der(1;14). Fluorescence in situ hybridization (FISH) experiments have been performed on chromosome preparations from bone marrow aspirate, using specific centromeric probes of both chromosomes, as well as a probe mapping to 1q11 band. FISH results showed that in our patient the derivative chromosome was monocentric with a unique centromere derived from chromosome 14. The breakpoints of the translocation were located in the short arm of chromosome 14 and in the long arm of chromosome 1, between the alphoid D1Z5 and the satellite II domains. The 1q breakpoint was within the pericentromeric region of chromosome 1, which is notoriously an unstable chromosomal region, involved in different chromosomal rearrangements.
authors.affiliation: Clinical Genetics, Department of Biomedical Sciences, Sassari, Italy. gfogu@uniss.it
authors.forename: G
authors.initials: G
authors.lastname: Fogu
authors.forename: P M
authors.initials: PM
authors.lastname: Campus
authors.forename: F
authors.initials: F
authors.lastname: Cambosu
authors.forename: M A
authors.initials: MA
authors.lastname: Moro
authors.forename: R
authors.initials: R
authors.lastname: Sanna
authors.forename: C
authors.initials: C
authors.lastname: Fozza
authors.forename: R M
authors.initials: RM
authors.lastname: Nieddu
authors.forename: M
authors.initials: M
authors.lastname: Longinotti
authors.forename: A
authors.initials: A
authors.lastname: Montella
mesh_terms: D000368:Aged; D002871:Chromosome Banding; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D009190:Myelodysplastic Syndromes / Q000209:etiology / Q000235:genetics*; D013997:Time Factors; D014178:Translocation, Genetic