title: Transient myeloproliferative disorder in a phenotypically normal infant with i(21q) mosaicism.
abstract: We report a case of transient myeloproliferative disorder (TMD) that occurred in a phenotypically normal infant with low level constitutional mosaicism of i(21q). To the best of our knowledge, this is the first documented case of TMD with constitutional i(21q) mosaicism.
authors.affiliation: Division of Medical Genetics, Department of Pediatrics, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA. swu@chla.usc.edu
authors.forename: Shi-Qi
authors.initials: SQ
authors.lastname: Wu
authors.forename: Kwan Tien
authors.initials: KT
authors.lastname: Loh
authors.forename: Xiao-Rong
authors.initials: XR
authors.lastname: Chen
authors.forename: Wan Jong
authors.initials: WJ
authors.lastname: Joo
authors.forename: Leo
authors.initials: L
authors.lastname: Mascarenhas
mesh_terms: D002891:Chromosomes, Human, Pair 21; D006801:Humans; D007231:Infant, Newborn; D018404:Isochromosomes; D008297:Male; D009030:Mosaicism; D009196:Myeloproliferative Disorders / Q000235:genetics*