title: Detection of diagnostically critical, often hidden, anomalies in complex karyotypes of haematological disorders using multicolour fluorescence in situ hybridization.
abstract: 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.
authors: Cytogenetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic and Mayo Foundation, 200 First Street SW, Rochester, MN 55905, USA. sjalal@mayo.edu
authors: S M
authors: SM
authors: Jalal
authors: M E
authors: ME
authors: Law
authors: J
authors: J
authors: Stamberg
authors: R
authors: R
authors: Fonseca
authors: J R
authors: JR
authors: Seely
authors: W H
authors: WH
authors: Myers
authors: C A
authors: CA
authors: Hanson
mesh_terms: D000208:Acute Disease; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002051:Burkitt Lymphoma / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D005260:Female; D015321:Gene Rearrangement; D019337:Hematologic Neoplasms / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007621:Karyotyping / Q000379:methods; D007951:Leukemia, Myeloid / Q000235:genetics; D020522:Lymphoma, Mantle-Cell / Q000235:genetics; D008297:Male; D054198:Precursor Cell Lymphoblastic Leukemia-Lymphoma / Q000235:genetics