2023
DOI: 10.1186/s13039-023-00658-w
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Prenatal diagnosis of Down syndrome combined with transient abnormal myelopoiesis in foetuses with a GATA1 gene variant: two case reports

Hui Tang,
Jingjing Hu,
Ling Liu
et al.

Abstract: Background Down syndrome myeloid hyperplasia includes transient abnormal myelopoiesis (TAM) and the myeloid leukemia associated with Down syndrome (ML-DS). The mutation of GATA1 gene is essential in the development of Down syndrome combined with TAM or ML-DS. Some patients with TAM are asymptomatic and may also present with severe manifestations such as hepatosplenomegaly and hydrops. Case presentation We report two cases of prenatally diagnosed TA… Show more

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Cited by 3 publications
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