Cryptic translocations involving chromosome 20 in polycythemia vera

Maryvonne Busson; Serge Romana; Florence Nguyen Khac; Olivier Bernard; Roland Berger

doi:10.1016/j.anngen.2004.08.003

Cryptic translocations involving chromosome 20 in polycythemia vera

Maryvonne Busson, Serge Romana, Florence Nguyen Khac, Olivier Bernard, Roland Berger

Résultats de recherche: Contribution à un journal › Article › Revue par des pairs

7 Citations (Scopus)

Résumé

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.

langue originale	Anglais
Pages (de - à)	365-371
Nombre de pages	7
journal	Annales de Genetique
Volume	47
Numéro de publication	4
Les DOIs	https://doi.org/10.1016/j.anngen.2004.08.003
état	Publié - 1 oct. 2004

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10.1016/j.anngen.2004.08.003

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@article{f73e07129556498ea51d933480e03845,

title = "Cryptic translocations involving chromosome 20 in polycythemia vera",

abstract = "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.",

keywords = "Cryptic translocation, FISH, Polycythemia vera",

author = "Maryvonne Busson and Serge Romana and Khac, {Florence Nguyen} and Olivier Bernard and Roland Berger",

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T1 - Cryptic translocations involving chromosome 20 in polycythemia vera

AU - Busson, Maryvonne

AU - Romana, Serge

AU - Khac, Florence Nguyen

AU - Bernard, Olivier

AU - Berger, Roland

PY - 2004/10/1

Y1 - 2004/10/1

N2 - 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.

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.

KW - Cryptic translocation

KW - FISH

KW - Polycythemia vera

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