Myeloproliferative disease of childhood associated with a trisomy 21 clone.
Myeloproliferative disease of childhood is frequently associated with chromosomal anomalies, usually of the C group. Clinical features are similar to those of the juvenile type of chronic myeloid leukemia. A child with this disease is described. Marked myeloid proliferation, anemia, thrombocytopenia and hepatosplenomegaly were present; leukocyte alkaline phosphatase and fetal hemoglobin were moderately elevated. Chromosome analysis of bone marrow cells revealed a mosaicism 47,XX,+21/46,XX. Down's syndrome was ruled out by the child's normal phenotype and dermatoglyphic analysis. The cytogenetic finding is probably evidence for the clonal origin of the trisomy 21 cell line.
D001854:Bone Marrow Cells; D002460:Cell Line; D002648:Child; D002871:Chromosome Banding; D002904:Chromosomes, Human, 21-22 and Y; D002999:Clone Cells; D005260:Female; D006801:Humans; D009030:Mosaicism; D009196:Myeloproliferative Disorders / Q000097:blood / Q000235:genetics*; D014314:Trisomy