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Detection of diagnostically critical, often hidden, anomalies in complex karyotypes of haematological disorders using multicolour fluorescence in situ hybridization
Author(s) -
Jalal S. M.,
Law M. E.,
Stamberg J.,
Fonseca R.,
Seely J. R.,
Myers W. H.,
Hanson C. A.
Publication year - 2001
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1046/j.1365-2141.2001.02630.x
Subject(s) - fluorescence in situ hybridization , karyotype , biology , locus (genetics) , in situ , fish <actinopterygii> , fluorescence , genetics , in situ hybridization , gene , microbiology and biotechnology , pathology , chromosome , medicine , chemistry , gene expression , physics , organic chemistry , quantum mechanics , fishery
Multicolour fluorescence in situ hybridization (M‐FISH) simultaneously detects all 24 human chromosomes in unique fluorescent colours. The identification of diagnostically critical gene rearrangement(s) in complex karyotypes of haematological disorders continues to be a challenge. We present five cases in which t(9;11), complex t(8;22), t(12;21) and t(11;14) were detected primarily using M‐FISH and were confirmed using locus‐specific probes. We conclude that M‐FISH can be effective in complete characterization of critical gene rearrangements in haematological disorders.