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Case Report

Transient Abnormal Myelopoeisis and Mosaic down Syndrome in a Phenotypically Normal Newborn

1
Department of Hematology-Oncology, Texas Children’s Hospital, Houston, TX 77030, USA
2
Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA
*
Author to whom correspondence should be addressed.
Received: 15 April 2020 / Revised: 18 May 2020 / Accepted: 26 May 2020 / Published: 28 May 2020
Transient abnormal myelopoiesis (TAM) is a common and potentially fatal neonatal complication of newborn babies with Down syndrome (DS). Children born with mosaic DS are also at risk of developing TAM. However, due to their variable phenotypes, early identification of patients with mosaic DS may be difficult; thus, early diagnosis of TAM is just as challenging. In this report, we describe a case of a phenotypically normal newborn who presented with concerns for neonatal leukemia. The diagnosis of mosaic DS and TAM was confirmed with abnormal GATA1 mutation testing, highlighting the importance of early GATA1 mutation testing in newborn leukemia with high suspicion for TAM. View Full-Text
Keywords: TAM; transient myeloproliferative disease; trisomy 21; down syndrome; mosaic down syndrome; GATA1; acute megakaryocytic leukemia (AMKL) TAM; transient myeloproliferative disease; trisomy 21; down syndrome; mosaic down syndrome; GATA1; acute megakaryocytic leukemia (AMKL)
MDPI and ACS Style

Prudowsky, Z.; Han, H.; Stevens, A. Transient Abnormal Myelopoeisis and Mosaic down Syndrome in a Phenotypically Normal Newborn. Children 2020, 7, 52. https://0-doi-org.brum.beds.ac.uk/10.3390/children7060052

AMA Style

Prudowsky Z, Han H, Stevens A. Transient Abnormal Myelopoeisis and Mosaic down Syndrome in a Phenotypically Normal Newborn. Children. 2020; 7(6):52. https://0-doi-org.brum.beds.ac.uk/10.3390/children7060052

Chicago/Turabian Style

Prudowsky, Zachary, HyoJeong Han, and Alexandra Stevens. 2020. "Transient Abnormal Myelopoeisis and Mosaic down Syndrome in a Phenotypically Normal Newborn" Children 7, no. 6: 52. https://0-doi-org.brum.beds.ac.uk/10.3390/children7060052

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