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dc.contributor.authorTosi, S
dc.contributor.authorHarbott, J
dc.contributor.authorHaas, O A
dc.contributor.authorDouglas, A
dc.contributor.authorHughes, D M
dc.contributor.authorRoss, F M
dc.contributor.authorBiondi, A
dc.contributor.authorScherer, S W
dc.contributor.authorKearney, L
dc.date.accessioned2010-04-06T09:10:45Z
dc.date.available2010-04-06T09:10:45Z
dc.date.issued1996-04
dc.identifier.citationClassification of deletions and identification of cryptic translocations involving 7q by fluorescence in situ hybridization (FISH). 1996, 10 (4):644-9 Leukemiaen
dc.identifier.issn0887-6924
dc.identifier.pmid8618441
dc.identifier.urihttp://hdl.handle.net/10541/95620
dc.description.abstractMonosomy 7 (-7) and deletion of the long arm of chromosome 7, del(7q), are frequent non-random findings in the myelodysplastic syndromes (MDS) and acute myeloid leukaemia (AML), particularly associated with therapy-related disease (t-MDS and t-AML). The cytogenetic breakpoints of 7q deletions are variable, with both terminal and interstitial deletions reported. It is now believed that most deletions are interstitial, and that the variability in reported breakpoints may be due to the difficulty in determining whether the terminal, pale staining G band is present. It has also been suggested that some reported deletions of 7q may be cryptic translocations. To address these questions, we carried out fluorescence in situ hybridization (FISH) studies on leukaemic cells from a large series of patients using a chromosome 7-specific paint and a 7q telomere-specific probe. Of the 26 cases studied, seven were 'pure' deletions (ie without the involvement of other chromosomes); four were interstitial and two terminal. One further patient had two clones each with a different deletion: one with a terminal del(7)(q22) and the second with an interstitial del(7)(q32-qter). A further nine cases had unbalanced translocations with deletion of 7q terminal sequences. The remaining 10 cases were translocations and complex rearrangements, some involving interstitial deletions of 7q. In two cases in which del(7q) was reported as the sole cytogenetic abnormality by G-banding, FISH revealed cryptic translocations involving 7q.
dc.language.isoenen
dc.subjectLeukaemiaen
dc.subject.meshAdult
dc.subject.meshAged
dc.subject.meshAged, 80 and over
dc.subject.meshChild
dc.subject.meshChild, Preschool
dc.subject.meshChromosome Banding
dc.subject.meshChromosome Deletion
dc.subject.meshChromosomes, Human, Pair 7
dc.subject.meshFemale
dc.subject.meshHumans
dc.subject.meshIn Situ Hybridization, Fluorescence
dc.subject.meshInfant
dc.subject.meshKaryotyping
dc.subject.meshLeukemia
dc.subject.meshMale
dc.subject.meshMiddle Aged
dc.subject.meshMyelodysplastic Syndromes
dc.subject.meshTranslocation, Genetic
dc.titleClassification of deletions and identification of cryptic translocations involving 7q by fluorescence in situ hybridization (FISH).en
dc.typeArticleen
dc.contributor.departmentMRC Molecular Haematology Unit, John Radcliffe Hospital, Oxford, UK.en
dc.identifier.journalLeukemiaen
html.description.abstractMonosomy 7 (-7) and deletion of the long arm of chromosome 7, del(7q), are frequent non-random findings in the myelodysplastic syndromes (MDS) and acute myeloid leukaemia (AML), particularly associated with therapy-related disease (t-MDS and t-AML). The cytogenetic breakpoints of 7q deletions are variable, with both terminal and interstitial deletions reported. It is now believed that most deletions are interstitial, and that the variability in reported breakpoints may be due to the difficulty in determining whether the terminal, pale staining G band is present. It has also been suggested that some reported deletions of 7q may be cryptic translocations. To address these questions, we carried out fluorescence in situ hybridization (FISH) studies on leukaemic cells from a large series of patients using a chromosome 7-specific paint and a 7q telomere-specific probe. Of the 26 cases studied, seven were 'pure' deletions (ie without the involvement of other chromosomes); four were interstitial and two terminal. One further patient had two clones each with a different deletion: one with a terminal del(7)(q22) and the second with an interstitial del(7)(q32-qter). A further nine cases had unbalanced translocations with deletion of 7q terminal sequences. The remaining 10 cases were translocations and complex rearrangements, some involving interstitial deletions of 7q. In two cases in which del(7q) was reported as the sole cytogenetic abnormality by G-banding, FISH revealed cryptic translocations involving 7q.


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