ArticleInternational journal of hematology2014
Transient abnormal myelopoiesis in a phenotypically normal newborn with polyclonal trisomy 21.
Article in International journal of hematology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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1 citing paper in PubMed, 3 citations in OpenAlex.
- Clinical characterization and genetic analysis of transient abnormal myelopoiesis without the down syndrome phenotype.Molecular genetics and metabolism reports · 2025Article
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8 authors at 2 institutions in 1 country.
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Abstract
We report a rare case of transient abnormal myelopoiesis (TAM) in a phenotypically normal neonate. The presence of a palpable hepatomegaly prompted in-depth laboratory tests, which revealed the presence of severe hyperleukocytosis, with blast cells present in a peripheral blood smear. Although no signs of Down syndrome were present, we suspected TAM. Further analysis identified a mutation in GATA1 along with the unique finding of two different trisomic cell lines, detected upon karyotyping; one with trisomy 21 only, and one with trisomies 21 and 22, which was present in a subpopulation of peripheral blood cells. These genetic abnormalities disappeared by the age of 6 months. The presence of two different trisomic clones may be an evidence of the polyclonal nature of TAM in this patient.
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