Hypereosinophilic syndrome in a child mosaic for a congenital triplication of the short arm of chromosome 8
(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.
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/1296429
- author
- Egesten, Arne LU ; Hagerstrand, I ; Kristoffersson, Ulf LU and Garwicz, Stanislaw LU
- organization
- publishing date
- 1997
- type
- Contribution to journal
- publication status
- published
- subject
- in
- British Journal of Haematology
- volume
- 96
- issue
- 2
- pages
- 73 - 369
- publisher
- Wiley-Blackwell
- 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
- 2016-04-04 13:00:03
- date last changed
- 2022-01-29 23:35:57
@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 = {{Wiley-Blackwell}},
series = {{British Journal of Haematology}},
title = {{Hypereosinophilic syndrome in a child mosaic for a congenital triplication of the short arm of chromosome 8}},
url = {{http://onlinelibrary.wiley.com/doi/10.1046/j.1365-2141.1997.9122545.x/abstract}},
volume = {{96}},
year = {{1997}},
}