title: Translocation (X;20) involving the inactive X chromosome in a patient with myeloproliferative disorder.
abstract: We report a patient with an unclassifiable myeloproliferative disorder and the rare t(X;20)(q13;q13.3) as the sole cytogenetic abnormality. The breakpoint on Xq is consistent with other reports of translocations involving the X chromosome with breakpoints that cluster to Xq13 and association with myeloid disorders. Late replication studies demonstrated the inactive X chromosome was involved in this translocation. The critical event in patients with myeloproliferative disease and deletion of 20q appears to be the loss of tumor suppressor genes. This may also be the mechanism in this patient with a potential cryptic deletion associated with the translocation. Alternatively, spreading of X inactivation into the derivative chromosome 20 provides a second mechanism for the loss of function of tumor suppressor genes on 20q. The finding in this patient of t(X;20) together with three others reported in the literature indicates that this may represent a primary non-random abnormality associated with myeloid malignancy, which may take on clinical significance with the accumulation of more cases.
authors.affiliation: Department of Haematology, Royal Perth Hospital, GPO Box X2213, Perth, Western Australia 6847. john.oreilley@health.wa.gov.au
authors.forename: John
authors.initials: J
authors.lastname: O'Reilly
authors.forename: Julie
authors.initials: J
authors.lastname: Crawford
authors.forename: Joan
authors.initials: J
authors.lastname: Uzaraga
authors.forename: Paul
authors.initials: P
authors.lastname: Cannell
mesh_terms: D002890:Chromosomes, Human, Pair 20; D041321:Chromosomes, Human, X; D004303:Dosage Compensation, Genetic; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D009196:Myeloproliferative Disorders / Q000235:genetics*; D014178:Translocation, Genetic