title: A case of myelofibrosis with a t(4;13)(q25;q12): evidence for involvement of a second 13q12 locus in chronic myeloproliferative disorders.
abstract: Aberrations of 13q are frequently found in myeloproliferative disorders (MPD). In a case of primary proliferative polycythaemia which transformed to myelofibrosis, karyotype analysis at transformation revealed an acquired t(4;13)(q25;q12). FISH and Southern analysis demonstrated that the ZNF198 gene, disrupted in the t(8;13)(p11;q12) myeloproliferative syndrome, was unaffected by the t(4;13). FISH analysis mapped the 13q12 breakpoint to the genomic region flanked by the genetic markers D13S1126 and D13S1121. Physical mapping estimated this region to be <80 kbp. Our results suggest the possibility of a novel gene, distinct from ZNF198, that is located at chromosome 13q12 and involved in the pathogenesis of myelofibrosis.
authors.affiliation: Charing Cross Hospital, Fulham Palace Road, London.
authors.forename: D H
authors.initials: DH
authors.lastname: MacDonald
authors.forename: D
authors.initials: D
authors.lastname: Lahiri
authors.forename: A
authors.initials: A
authors.lastname: Chase
authors.forename: J
authors.initials: J
authors.lastname: Sohal
authors.forename: J M
authors.initials: JM
authors.lastname: Goldman
authors.forename: N C
authors.initials: NC
authors.lastname: Cross
mesh_terms: D002882:Chromosomes, Human, Pair 13 / Q000235:genetics*; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D008875:Middle Aged; D055728:Primary Myelofibrosis / Q000235:genetics*; D014178:Translocation, Genetic / Q000235:genetics*