Improvement of pancytopenia and thrombocytopenia with decreasing mosaicism for isochromosome Xp

We report the unique association of variable constitutional mosaicism 46,X, i(X)(p10)/46,XX with recurrent thrombocytopenia 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. Imp...

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Bibliographic Details
Published in:Pediatric Blood & Cancer 2009-05, Vol.52 (5), p.650-652
Main Authors: Gray, S. Lauren, de Chadarévian, J.P., Anderson, Carol E., Shafer, Frank E., Punnett, Hope H., Morrissette, Jennifer J.D.
Format: Article
Language:English
Subjects:
Child
Child, Preschool
Chromosomes, Human, X - genetics
cytogenetics
Female
Humans
i(X)(p10)
isochromosome
Isochromosomes - genetics
Karyotyping
Mosaicism
Pancytopenia - complications
Pancytopenia - genetics
thrombocytopenia
Thrombocytopenia - complications
Thrombocytopenia - genetics
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Summary:We report the unique association of variable constitutional mosaicism 46,X, i(X)(p10)/46,XX with recurrent thrombocytopenia 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. © 2009 Wiley‐Liss, Inc.
ISSN:1545-5009
1545-5017
1096-911X
DOI:10.1002/pbc.21890