Prenatal diagnosis of Down syndrome combined with transient abnormal myelopoiesis in foetuses with a GATA1 gene variant: two case reports

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 asym...

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Bibliographic Details
Main Authors: Hui Tang, Jingjing Hu, Ling Liu, Lijuan Lv, Jian Lu, Jiexia Yang, Jiaqi Lu, Zhenhui Chen, Chaoxiang Yang, Dan Chen, Jintao Fu, Jing Wu
Format: Article
Language:English
Published: BMC 2023-10-01
Series:Molecular Cytogenetics
Subjects:
Online Access:https://doi.org/10.1186/s13039-023-00658-w