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Article

Hematological abnormalities in a patient with a 22q11.2 deletion.

Brain & development - 1 Aug 2004

Saito Mariko, Ishikawa Tatsuya, Ito Yoshinori, Shimizu Hideo

Abstract excerpt

We report a case of a 28-year-old man carrying a 22q11.2 deletion and presenting with giant platelets, thrombocytopenia and leukocyte inclusion bodies. In our patient, platelet glycoproteins were normally expressed on membranes and platelet function was preserved. The May-Hegglin anomaly or Sebastian syndrome associated with the 22q11.2 deletion was suggested. Atypical features also included the lack of any...

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Source

Identifiers

PMID: 15165677
DOI: 10.1016/j.braindev.2003.11.006

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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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