Transient myeloproliferative disorder as the presenting feature for mosaic trisomy 21.
Cold Spring Harb Mol Case Stud
; 7(6)2021 12.
Article
en En
| MEDLINE
| ID: mdl-34789514
ABSTRACT
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.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Síndrome de Down
/
Trastornos Mieloproliferativos
Límite:
Female
/
Humans
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Male
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Pregnancy
Idioma:
En
Revista:
Cold Spring Harb Mol Case Stud
Año:
2021
Tipo del documento:
Article
País de afiliación:
Estados Unidos