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Article

GATA1 mutation and trisomy 21 are required only in haematopoietic cells for development of transient myeloproliferative disorder.

British journal of haematology - 1 Feb 2005

Carpenter Emily, Valverde-Garduno Veronica, Sternberg Alex, Mitchell Chris, Roberts Irene, Vyas Paresh, Vora Ajay

Abstract excerpt

Trisomy 21 [Down's syndrome (DS)] and mutations in transcription factor GATA1 predispose neonates to a transient myeloproliferative disorder (TMD) and/or acute megakaryocytic leukaemia (AMKL). The role of trisomy 21 in their pathogenesis is unclear. We previously reported two rare neonates without DS who had TMD, one of whom progressed to AMKL. Trisomy 21 was detected only in blood cells at presentation with...

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Share to Chromosomes, Human, Pair 21
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Erythroid-Specific DNA-Binding Factors

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Share to Leukemia, Megakaryoblastic, Acute

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Source

Identifiers

PMID: 15686466
DOI: 10.1111/j.1365-2141.2004.05342.x

Genes

GATA1

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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