Journal of Down Syndrome & Chromosome Abnormalities

Journal of Down Syndrome & Chromosome Abnormalities
Open Access

ISSN: 2472-1115

Lerda D

Lerda D
Molecular Genetic Laboratory, Reina Fabiola University Clinic,

  • Case Report
    Transient Myeloproliferative Disorder in Neonates with Down syndrome: Case Report and Review
    Author(s): Polacov S, Bertoldi A, Sosa I, Hollmann C and Lerda DPolacov S, Bertoldi A, Sosa I, Hollmann C and Lerda D

    Down syndrome (DS) or trisomy 21 is the most prevalent chromosomopathy. Interesting associations have been documented between DS and various hematopoietic and non-hematopoietic malignancies. Transient myeloproliferative disorder (TMD) is a clonal proliferation of megakaryoblasts, typically occurring in newborns with DS. It is believed that TMD occurs in the presence of GATA-1 mutation together with trisomy 21. The disorder resolved in the majority of patients during the first six months of life, however, 30% of patients can develop acute leukemia or a myelodysplastic syndrome in the first five years of life. In most instances, this unique disorder has the ability to spontaneously “turn off” the overproliferation and enter a state of remission. Only supportive care is recommended for TMD during the first months of life unless the clinical condition requires intervention. This .. View More»
    DOI: 10.4172/2472-1115.1000126

    Abstract PDF

Relevant Topics