Transient myeloproliferative disorder in a phenotypically normal infant with i(21q) mosaicism

Shi-Qi Wu; Kwan Tien Loh; Xiao-Rong Chen; Wan Jong Joo; Leo Mascarenhas

doi:10.1016/s0165-4608(02)00518-6

Transient myeloproliferative disorder in a phenotypically normal infant with i(21q) mosaicism

Cancer Genet Cytogenet. 2002 Jul 15;136(2):138-40. doi: 10.1016/s0165-4608(02)00518-6.

Authors

Shi-Qi Wu¹, Kwan Tien Loh, Xiao-Rong Chen, Wan Jong Joo, Leo Mascarenhas

Affiliation

¹ Division of Medical Genetics, Department of Pediatrics, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA. [email protected]

PMID: 12237238
DOI: 10.1016/s0165-4608(02)00518-6

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.

Publication types

Case Reports

MeSH terms

Chromosomes, Human, Pair 21*
Humans
Infant, Newborn
Isochromosomes*
Male
Mosaicism*
Myeloproliferative Disorders / genetics*