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Does isochromosome 7q mandate bone marrow transplant in children with Shwachman–Diamond syndrome?

1 Dec 2002

Abstract excerpt

We report on nine children with Shwachman-Diamond syndrome (SDS), eight of whom had clonal abnormalities of chromosome 7. Seven children had an isochromosome 7 [i(7)(q10)] and one a derivative chromosome 7, all with an apparently identical (centromeric) breakpoint. Children with SDS are predisposed to myelodysplasia (MDS) and acute myeloid leukaemia (AML) often with chromosome 7 abnormalities. Allogeneic...

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PMID: 12472589
DOI: 10.1046/j.1365-2141.2002.03940.x

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