title: Myelodysplastic syndrome with an unbalanced 1;16 translocation in a case of early age of onset.
abstract: We present a 30-year-old male patient diagnosed with myelodysplastic syndrome (MDS). Chromosome analysis of the bone marrow aspirate revealed a derivative chromosome resulting from an unbalanced 1;16 translocation causing the gain of 1q and loss of 16q. Dual color fluorescence in situ hybridization demonstrated that the 1q;16p derivative chromosome contained centromeric material derived from chromosome 1, and accordingly the translocation was designated as a der (1)t(1;16)(p11;p11.1). Review of literature revealed that 1;16 translocation in MDS is nonrandom and is always described as unbalanced, resulting in trisomy 1q and monosomy 16q.
authors.affiliation: Department of Pathology, Cytogenetic Laboratory, Detroit Medical Center, Wayne State University School of Medicine, Detroit, Michigan, USA.
authors.forename: Sarah
authors.initials: S
authors.lastname: Dean
authors.forename: Anwar N
authors.initials: AN
authors.lastname: Mohamed
mesh_terms: D000208:Acute Disease; D000328:Adult; D017668:Age of Onset; D016026:Bone Marrow Transplantation; D002675:Child, Preschool; D002878:Chromosomes, Human, Pair 1 / Q000648:ultrastructure*; D002885:Chromosomes, Human, Pair 16 / Q000648:ultrastructure*; D003131:Combined Modality Therapy; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007951:Leukemia, Myeloid / Q000209:etiology; D016411:Lymphoma, T-Cell, Peripheral / Q000188:drug therapy / Q000235:genetics / Q000601:surgery; D008297:Male; D008479:Mediastinal Neoplasms / Q000188:drug therapy / Q000235:genetics / Q000601:surgery; D009190:Myelodysplastic Syndromes / Q000453:epidemiology / Q000235:genetics*; D055728:Primary Myelofibrosis / Q000235:genetics; D012074:Remission Induction; D014178:Translocation, Genetic; D014184:Transplantation, Homologous