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Article

Tetrasomy 21 transient leukemia with a GATA1 mutation in a phenotypically normal trisomy 21 mosaic infant: case report and review of the literature.

Pediatric blood & cancer - 1 Jan 2005

Sandoval Claudio, Pine Sharon R, Guo Qianxu, Sastry Sudha, Stewart Julian, Kronn David, Jayabose Somasundaram

Abstract excerpt

Infants with constitutional trisomy 21 are at increased risk of developing transient and acute megakaryoblastic leukemia (AMKL). Mutations in GATA1 have been identified in trisomy 21 patients with AMKL, and this lesion is thought to be an initial event by virtue of its presence during transient leukemia. Transient leukemia is also observed in phenotypically normal infants albeit much less commonly so. Almost all...

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Source

Identifiers

PMID: 15390279
DOI: 10.1002/pbc.20161

Genes

GATA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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