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Titolo:
LINKAGE STUDIES EXCLUDE THE AT-V GENE(S) FROM THE TRANSLOCATION BREAKPOINTS IN AN AT-V PATIENT
Autore:
CHRZANOWSKA K; STUMM M; BIALECKA M; SAAR K; BERNATOWSKAMATUSZKIEWICZ E; MICHALKIEWICZ J; BARSZCZ S; REIS A; WEGNER RD;
Indirizzi:
HUMBOLDT UNIV BERLIN,KLINIKUM RUDOLF VIRCHOW,INST HUMAN GENET,AUGUSTENBURGER PL 1 D-13353 BERLIN GERMANY HUMBOLDT UNIV BERLIN,KLINIKUM RUDOLF VIRCHOW,INST HUMAN GENET D-13353BERLIN GERMANY CHILDRENS MEM HLTH INST,DEPT GENET WARSAW POLAND OTTO VON GUERICKE UNIV HOSP,INST HUMAN GENET MAGDEBURG GERMANY CHILDRENS MEM HLTH INST,DEPT NEUROSURG WARSAW POLAND CHILDRENS MEM HLTH INST,DEPT CLIN IMMUNOL WARSAW POLAND MAX DELBRUCK CTR MOL MED,MICROSATELLITE CTR BERLIN GERMANY
Titolo Testata:
Clinical genetics
fascicolo: 5, volume: 51, anno: 1997,
pagine: 309 - 313
SICI:
0009-9163(1997)51:5<309:LSETAG>2.0.ZU;2-4
Fonte:
ISI
Lingua:
ENG
Soggetto:
NIJMEGEN BREAKAGE SYNDROME; CHROMOSOMAL INSTABILITY DISORDER; ATAXIA-TELANGIECTASIA GENE; IMMUNODEFICIENCY; COMPLEMENTATION;
Keywords:
AT-V GENE; AT VARIANT (AT-V); BERLIN BREAKAGE SYNDROME (BBS); CONSTITUTIONAL TRANSLOCATION; GENE MAPPING; NIJMEGEN BREAKAGE SYNDROME (NBS);
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
18
Recensione:
Indirizzi per estratti:
Citazione:
K. Chrzanowska et al., "LINKAGE STUDIES EXCLUDE THE AT-V GENE(S) FROM THE TRANSLOCATION BREAKPOINTS IN AN AT-V PATIENT", Clinical genetics, 51(5), 1997, pp. 309-313

Abstract

An 8-year-old girl with severe microcephaly of prenatal onset, borderline intelligence, defects of skin pigmentation, deficiency of both humoral and cellular immunity, a normal serum alpha-fetoprotein level and hypersensitivity to ionizing irradiation is described. Spontaneous chromosomal breakage in lymphocytes together with the clinical presentation led to the diagnosis of ataxia telangiectasia variant (AT-V). In addition, the patient carried a constitutional translocation of paternal origin: 46,XX,t(3;7)(q12;q31.3) pat. In subsequent linkage and haplotype studies in 12 AT-V families with microsatellite markers from each of the translocation breakpoint regions, we could clearly exclude the localization of an AT-V gene to these regions.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 05/12/20 alle ore 01:44:03