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Improvement of Pancytopenia and Thrombocytopenia With Decreasing Mosaicism for Isochromosome Xp
Journal article   Peer reviewed

Improvement of Pancytopenia and Thrombocytopenia With Decreasing Mosaicism for Isochromosome Xp

S. Lauren Gray, J. P. de Chadarevian, Carol E. Anderson, Frank E. Shafer, Hope H. Punnett and Jennifer J. D. Morrissette
Pediatric blood & cancer, v 52(5), pp 650-652
01 May 2009
PMID: 19145639

Abstract

Hematology Life Sciences & Biomedicine Oncology Pediatrics Science & Technology
We report the unique association of variable constitutional mosaicism 46,X, i(X)(p10)/46,XX with recurrent thrornbocytopenia in a child with failure to thrive and apnea in infancy. Her bone marrow had equal distribution of the normal and abnormal cell lines at diagnosis, at nearly 6 years of age. Improvement of her pancytopenia and thrombocytopenia was concurrent with a decreasing level of mosaicism observed in multiple studies over the next 3 years. This Suggests that extra copies of genes on the p-arm are inhibitory to blood cell maturation, with long-term selection against the i(Xp)-containing cells. Pediatr Blood Cancer 2009;52:650-652. (C) 2009 Wiley-Liss, Inc.

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Web of Science research areas
Hematology
Oncology
Pediatrics
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