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Titolo:
HYPEREOSINOPHILIC SYNDROME IN A CHILD MOSAIC FOR A CONGENITAL TRIPLICATION OF THE SHORT ARM OF CHROMOSOME-8
Autore:
EGESTEN A; HAGERSTRAND I; KRISTOFFERSSON U; GARWICZ S;
Indirizzi:
MALMO UNIV HOSP,DEPT MED S-20503 MALMO SWEDEN UNIV LUND HOSP,DEPT PAEDIAT S-22185 LUND SWEDEN UNIV LUND HOSP,DEPT PATHOL S-22185 LUND SWEDEN UNIV LUND HOSP,DEPT CLIN GENET S-22185 LUND SWEDEN
Titolo Testata:
British Journal of Haematology
fascicolo: 2, volume: 96, anno: 1997,
pagine: 369 - 373
SICI:
0007-1048(1997)96:2<369:HSIACM>2.0.ZU;2-4
Fonte:
ISI
Lingua:
ENG
Soggetto:
EOSINOPHILS; INTERLEUKIN-5; TRISOMY-8;
Keywords:
HYPEREOSINOPHILIC SYNDROME (HES); EOSINOPHIL CATIONIC PROTEIN (ECP); INTERLEUKIN-5; CHROMOSOMAL ABNORMALITY; EOSINOPHILS;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
11
Recensione:
Indirizzi per estratti:
Citazione:
A. Egesten et al., "HYPEREOSINOPHILIC SYNDROME IN A CHILD MOSAIC FOR A CONGENITAL TRIPLICATION OF THE SHORT ARM OF CHROMOSOME-8", British Journal of Haematology, 96(2), 1997, pp. 369-373

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 190x10(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 bf eosinopoiesis.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 28/09/20 alle ore 11:20:47