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Hypereosinophilic syndrome in a child mosaic for a congenital triplication of the short arm of chromosome 8

Egesten, Arne LU ; Hagerstrand, I; Kristoffersson, Ulf LU and Garwicz, Stanislaw LU (1997) In British journal of haematology 96(2). p.73-369
Abstract
An 11-year-old boy with mental retardation, malformations, and the mosaic karyotype 47,XY,+i(8p)/46,XY presented with fever, headache and petechiae. Peripheral blood WBC was 190 x 10(9)/l; and contained > 90% mature eosinophils. Cytogenetic analysis of the eosinophils revealed no aberrations except the constitutional karyotype. The patient was diagnosed as having a hypereosinophilic syndrome. Shortly after initiation of therapy he died from extensive mural thrombi of the heart and thrombi of several other organs. This is the first case of congenital triplication of the short arm of chromosome 8 associated with hypereosinophilic syndrome, suggesting involvement of genes on chromosome 8p in the regulation of eosinopoiesis.
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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
in
British journal of haematology
volume
96
issue
2
pages
73 - 369
publisher
Federation of European Neuroscience Societies and Blackwell Publishing Ltd
external identifiers
  • scopus:0031039876
language
English
LU publication?
yes
id
8283370d-d428-42b4-9554-ef936d674768 (old id 1296429)
alternative location
http://onlinelibrary.wiley.com/doi/10.1046/j.1365-2141.1997.9122545.x/abstract
http://www.ncbi.nlm.nih.gov/pubmed/9029027
date added to LUP
2013-08-07 14:47:33
date last changed
2017-01-01 08:09:34
@article{8283370d-d428-42b4-9554-ef936d674768,
  abstract     = {An 11-year-old boy with mental retardation, malformations, and the mosaic karyotype 47,XY,+i(8p)/46,XY presented with fever, headache and petechiae. Peripheral blood WBC was 190 x 10(9)/l; and contained > 90% mature eosinophils. Cytogenetic analysis of the eosinophils revealed no aberrations except the constitutional karyotype. The patient was diagnosed as having a hypereosinophilic syndrome. Shortly after initiation of therapy he died from extensive mural thrombi of the heart and thrombi of several other organs. This is the first case of congenital triplication of the short arm of chromosome 8 associated with hypereosinophilic syndrome, suggesting involvement of genes on chromosome 8p in the regulation of eosinopoiesis.},
  author       = {Egesten, Arne and Hagerstrand, I and Kristoffersson, Ulf and Garwicz, Stanislaw},
  language     = {eng},
  number       = {2},
  pages        = {73--369},
  publisher    = {Federation of European Neuroscience Societies and Blackwell Publishing Ltd},
  series       = {British journal of haematology},
  title        = {Hypereosinophilic syndrome in a child mosaic for a congenital triplication of the short arm of chromosome 8},
  volume       = {96},
  year         = {1997},
}