Transient myeloproliferative disorder in a phenotypically normal infant with i(21q) mosaicism.
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.
Wu
Shi-Qi
SQ
Division of Medical Genetics, Department of Pediatrics, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA. swu@chla.usc.edu
Loh
Kwan Tien
KT
Chen
Xiao-Rong
XR
Joo
Wan Jong
WJ
Mascarenhas
Leo
L
D002891:Chromosomes, Human, Pair 21; D006801:Humans; D007231:Infant, Newborn; D018404:Isochromosomes; D008297:Male; D009030:Mosaicism; D009196:Myeloproliferative Disorders / Q000235:genetics*