title: Identification of a whole-arm translocation by in situ hybridization with directly fluorochrome-labeled probes in a myelodysplastic syndrome.
abstract: A case of myelodysplasia was found to have a complex bone marrow karyotype, involving an apparent whole-arm translocation between 17q and 18q. The application of a simplified fluorescence in situ hybridization technique, using directly fluorochrome-labeled centromere-specific alpha-satellite DNA probes, demonstrated the presence of sequences from both chromosomes 17 and 18 in the centromere of the derivative chromosome. This proves that a true whole-arm translocation had occurred. The case exemplifies how in situ hybridization analysis can be used to resolve interpretation problems in cancer cytogenetics.
authors.affiliation: Department of Clinical Genetics, Karolinska Hospital, Stockholm, Sweden.
authors.forename: S
authors.initials: S
authors.lastname: Bajalica
authors.forename: K
authors.initials: K
authors.lastname: Brøndum-Nielsen
authors.forename: A G
authors.initials: AG
authors.lastname: Sørensen
authors.forename: N T
authors.initials: NT
authors.lastname: Pedersen
authors.forename: S
authors.initials: S
authors.lastname: Heim
mesh_terms: D000368:Aged; D002886:Chromosomes, Human, Pair 17; D002887:Chromosomes, Human, Pair 18; D015342:DNA Probes / Q000235:genetics; D004276:DNA, Satellite / Q000235:genetics; D005453:Fluorescence; D006801:Humans; D008297:Male; D009190:Myelodysplastic Syndromes / Q000235:genetics*; D009693:Nucleic Acid Hybridization; D014178:Translocation, Genetic / Q000235:genetics*
chemical_list: D015342:DNA Probes; D004276:DNA, Satellite