Transient myeloproliferative disorder as the presenting feature for mosaic trisomy 21

Trisomy 21 is a common congenital disorder with well-documented clinical manifestations, including an increased risk for the transient myeloproliferative disorder as a neonate and leukemia in childhood and adolescence. Transient myeloproliferative disorder is only known to occur in hematopoietic cel...

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Published inCold Spring Harbor molecular case studies Vol. 7; no. 6; p. a006126
Main Authors Baca, Nicole, Sanchez-Lara, Pedro A, Schreck, Rhona, Eno, Celeste C, Majlessipour, Fataneh
Format Journal Article
LanguageEnglish
Published United States Cold Spring Harbor Laboratory Press 01.12.2021
Subjects
Blood
Children
Chromosomes, Human, Pair 21
Congenital anomalies
Cytogenetics
Down Syndrome
Female
Humans
Leukemia
Male
Mosaicism
Mosaics
Myeloproliferative diseases
Myeloproliferative Disorders
Peripheral blood
Polycythemia
Pregnancy
Rapid Communication
Thrombocytopenia
Trisomy
Uniparental Disomy
extramedullary hematopoiesis
hematological neoplasm
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Summary:Trisomy 21 is a common congenital disorder with well-documented clinical manifestations, including an increased risk for the transient myeloproliferative disorder as a neonate and leukemia in childhood and adolescence. Transient myeloproliferative disorder is only known to occur in hematopoietic cells with trisomy 21. Children with mosaic trisomy 21 also have a risk for hematological malignancies. We present a nondysmorphic neonate, with a negative noninvasive prenatal screening of maternal blood for trisomy 21, who came to medical attention because of ruddy skin. He was found to have mild polycythemia, thrombocytopenia, and developed peripheral blasts. His clinical presentation was consistent with transient myeloproliferative disorder, which is only seen with trisomy 21. Cytogenetic studies of peripheral blood are positive for mosaic trisomy 21.
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ISSN:2373-2865
2373-2873
DOI:10.1101/mcs.a006126