PMID- 15581834 OWN - NLM STAT- MEDLINE DCOM- 20050512 LR - 20041207 IS - 0003-3995 (Print) IS - 0003-3995 (Linking) VI - 47 IP - 4 DP - 2004 Oct-Dec TI - Cryptic translocations involving chromosome 20 in polycythemia vera. PG - 365-71 AB - A systematic cytogenetic study was performed in 49 patients with polycythemia vera (PV) in order to investigate the occurrence of subtelomeric rearrangements of chromosome 20, the most frequently rearranged chromosome in this myeloproliferative disorder. Partial deletion of the long arm of chromosome 20 was observed in two patients and two cryptic translocations, t(1;20)(p36;q13) and t(18;20)(p11;q13) in two others, all previously treated. The localization of the breakpoints of the translocated 20 chromosomes was different in the two translocations, as shown by fluorescence in situ hybridization (FISH) to metaphase chromosomes using BAC clones. Although infrequent (2/49), cryptic translocations of chromosome 20 deserve to be detected as preliminary to identification of molecular defects in PV. FAU - Busson, Maryvonne AU - Busson M AD - Inserm EMI 0210, Tour Pasteur, Hopital Necker-Enfants Malades, 149, rue de Sevres, 75743 Paris cedex 15, France. FAU - Romana, Serge AU - Romana S FAU - Nguyen Khac, Florence AU - Nguyen Khac F FAU - Bernard, Olivier AU - Bernard O FAU - Berger, Roland AU - Berger R LA - eng PT - Journal Article PL - Netherlands TA - Ann Genet JT - Annales de genetique JID - 0370562 SB - IM MH - Aged MH - Aged, 80 and over MH - Chromosome Deletion MH - Chromosomes, Human, Pair 20/*genetics MH - Female MH - Humans MH - In Situ Hybridization, Fluorescence MH - Karyotyping MH - Male MH - Middle Aged MH - Polycythemia Vera/*genetics MH - *Translocation, Genetic EDAT- 2004/12/08 09:00 MHDA- 2005/05/13 09:00 CRDT- 2004/12/08 09:00 PHST- 2004/06/01 00:00 [received] PHST- 2004/08/26 00:00 [accepted] PHST- 2004/12/08 09:00 [pubmed] PHST- 2005/05/13 09:00 [medline] PHST- 2004/12/08 09:00 [entrez] AID - S0003-3995(04)00080-2 [pii] AID - 10.1016/j.anngen.2004.08.003 [doi] PST - ppublish SO - Ann Genet. 2004 Oct-Dec;47(4):365-71. doi: 10.1016/j.anngen.2004.08.003.