A patient with Down's syndrome (trisomy 21) is at increased risk for a variety of bone marrow disorders including myelodysplasia.
Features of myelodysplasia in a patient with Down's syndrome:
(1) thrombocytopenia and leukopenia
(2) abnormal megakaryocytes in the bone marrow
(3) abnormal karyotype on cytogenetics of the bone marrow, especially trisomy 8
These patients are at increased risk for progression to acute myeloid leukemia, especially acute megakaryocytic leukemia.
Differential diagnosis:
(1) acute lymphoblastic leukemia (ALL)
(2) transient myeloproliferative disorder
(3) acute myeloid leukemia (AML)
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Specialty: Hematology Oncology, Clinical Laboratory
ICD-10: ,
