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Article

Transient abnormal myelopoiesis in a cytogenetically normal neonate.

International journal of hematology - 1 Oct 2010

Yanase Kentaro, Kato Keisuke, Katayama Nobuko, Mouri Yoko, Kobayashi Chie, Shiono Junko, Abe Masakazu, Yoshimi Ai, Koike Kazutoshi, Arai Jun-Ichi, Tsuchida Masahiro

Abstract excerpt

We present a cytogenetically normal neonate who developed transient abnormal myelopoiesis. The blasts showed trisomy 21. In contrast, fibroblasts, and PHA-stimulated peripheral blood demonstrated normal diploid line on extensive karyotyping. Direct sequencing of the DNA derived from the peripheral blood at overt disease revealed splice site mutation in the boundary of GATA1 exon 2. The patient received three...

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Source

Identifiers

PMID: 20859711
DOI: 10.1007/s12185-010-0646-1

Genes

GATA1

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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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