title: Lineage-specific trisomy 21 in a neonate with resolving transient myeloproliferative syndrome.
abstract: The cellular events that lead to transient myeloproliferative syndrome (TMS) in patients with trisomy 21 mosaicism confined to the hematopoietic system are poorly understood. The authors attempt to define the event that led to the development of TMS in a single patient with clonal trisomy 21. A phenotypically normal neonate with clonal trisomy 21 is described. At the time when his TMS was resolving, fluorescent in situ hybridization analysis was performed on cell populations sorted by flow cytometry to determine what cell populations contained trisomic cells. Trisomy 21 was found in cells of the erythrocytic and monocytic lineages, but not in the stem cells, progenitor compartment, megakaryocytes, lymphocytes, or neutrophils. These results support the hypothesis that, in this neonate, trisomy 21 occurred in a multipotent hematopoietic progenitor, and a subsequent event led to the appearance of the blast population.
authors: Department of Pediatrics, University of Utah School of Medicine, Salt Lake City 84113, USA. bslayton@hci.utah.edu
authors: William B
authors: WB
authors: Slayton
authors: Gerald J
authors: GJ
authors: Spangrude
authors: Zhong
authors: Z
authors: Chen
authors: Wayne F
authors: WF
authors: Greene
authors: David
authors: D
authors: Virshup
mesh_terms: D000328:Adult; D015703:Antigens, CD / Q000378:metabolism; D019070:Cell Lineage / Q000235:genetics*; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics*; D004314:Down Syndrome / Q000235:genetics*; D004912:Erythrocytes; D005260:Female; D006412:Hematopoietic Stem Cells; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D007621:Karyotyping; D009000:Monocytes; D009030:Mosaicism / Q000235:genetics; D009196:Myeloproliferative Disorders / Q000235:genetics*
chemical_list: D015703:Antigens, CD