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Article

SBDS mutations and isochromosome 7q in a patient with Shwachman-Diamond syndrome: no predisposition to malignant transformation?

Cancer genetics and cytogenetics - 15 Oct 2004

Mellink C H M, Alders M, van der Lelie H, Hennekam R H C, Kuijpers T W

Abstract excerpt

Shwachman-Diamond syndrome (SDS) is a genetic disorder characterized by pancreatic hypoplasia, recurrent infection, and bone marrow (BM) dysfunction. SDS-patients have an increased frequency of myelodysplasia and leukemic transformation. Unspecific cytogenetic aberrations are a common finding in SDS. However, in a rising number of patients abnormalities of chromosome 7 have been reported, especially an i(7)(q10),...

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Source

Identifiers

PMID: 15474150
DOI: 10.1016/j.cancergencyto.2004.02.001

Genes

SDS
SBDS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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