Molecular cytogenetic delineation of the critical deleted region in the 5q-syndrome

Rina J. Jaju, Jacqueline Boultwood, Fiona J. Oliver, Markus Kostrzewa, Carrie Fidler, Norman Parker, John Douglas Mcpherson, Stephan W. Morris, Ulrich Müller, James S. Wainscoat, Lyndal Kearney

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76 Scopus citations


The 5q - syndrome is a distinct type of myelodysplastic syndrome (MDS) characterised by refractory anaemia, morphological abnormalities of megakaryocytes, and del(5q) as the sole cytogenetic abnormality. In contrast to patients with therapy-related MDS with 5q deletions, 5q - syndrome patients have a favourable prognosis and a low rate of transformation to acute leukaemia. We have previously delineated a common deleted region of 5.6 Mb between the gene for fibroblast growth factor acidic (FGFI) and the subunit of interleukin 12 (IL12B) in two patients with 5q - syndrome and small deletions, del(S)(q31q33). The present study used fluorescence in situ hybridisation (FISH) analysis of these and a third 5q - syndrome patient with a small deletion, del(5)(q33q34), to refine further the critical deleted region. This resulted in the narrowing of the common deleted region within 5q31.3-5q33 to approximately 3 Mb, flanked by the adrenergic receptor β2 (ADRB2) and IL12B genes. The common region of loss in these three 5q - syndrome patients includes the macrophage colony-stimulating factor-I receptor (CSF1R), secreted protein, acidic, cysteine-rich (SPARC), and glutamate receptor (GRIA1) genes. This 5q - syndrome critical region is telomeric to and distinct from the other critical regions on 5q associated with MDS and acute myeloid leukaemia.

Original languageEnglish (US)
Pages (from-to)251-256
Number of pages6
JournalGenes Chromosomes and Cancer
Issue number3
StatePublished - Jul 1998
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Cancer Research

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    Jaju, R. J., Boultwood, J., Oliver, F. J., Kostrzewa, M., Fidler, C., Parker, N., Mcpherson, J. D., Morris, S. W., Müller, U., Wainscoat, J. S., & Kearney, L. (1998). Molecular cytogenetic delineation of the critical deleted region in the 5q-syndrome. Genes Chromosomes and Cancer, 22(3), 251-256.<251::AID-GCC11>3.0.CO;2-R