Unbalanced jumping translocation involving 3q in myeloproliferative disease.
An 87-year-old woman was diagnosed with unclassified myeloproliferative disease having an acquired jumping translocation with the long arm of chromosome 3 translocating to the short arm telomeric region of chromosome 8 (major clone) and the long arm telomeric region of chromosome 10 (minor clone). Each abnormal clone was also associated with an extra copy of chromosome 8. Although there was no evidence of transformation to an acute leukemia, the patient deteriorated until her demise 7 months after disease presentation. There have been fewer than 70 cases of acquired jumping translocations reported in the literature. To our knowledge, this is the first acquired jumping translocation case to be reported in a patient with myeloproliferative disease.
Department of Medical Genetics, Belfast City Hospital, Belfast Health and Social Care Trust, Lisburn Road, Belfast, BT9 7AB, Northern Ireland, UK. peter.mcgrattan@belfasttrust.hscni.net
Peter
P
McGrattan
Mervyn
M
Humphreys
Donald
D
Hull
D000369:Aged, 80 and over; D001996:Bronchopneumonia / Q000209:etiology; D002879:Chromosomes, Human, Pair 10 / Q000648:ultrastructure; D002893:Chromosomes, Human, Pair 3 / Q000648:ultrastructure; D002898:Chromosomes, Human, Pair 8 / Q000648:ultrastructure; D005260:Female; D006801:Humans; D006918:Hydroxyurea / Q000627:therapeutic use; D020071:Interspersed Repetitive Sequences; D009196:Myeloproliferative Disorders / Q000150:complications / Q000188:drug therapy / Q000235:genetics*; D014178:Translocation, Genetic
D006918:Hydroxyurea