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Titolo:
CHROMOSOME INSTABILITY WITH BLEOMYCIN AND X-RAY HYPERSENSITIVITY IN ABOY WITH NIJMEGEN BREAKAGE SYNDROME
Autore:
PEREZVERA P; GONZALEZDELANGEL A; MOLINA B; GOMEZ L; FRIAS S; GATTI RA; CARNEVALE A;
Indirizzi:
INST NACL PED,DEPT GENET,INSURGENTES SUR 3700 C MEXICO CITY 04530 DF MEXICO UNIV CALIF LOS ANGELES,SCH MED,DEPT PATHOL LOS ANGELES CA 90024
Titolo Testata:
American journal of medical genetics
fascicolo: 1, volume: 70, anno: 1997,
pagine: 24 - 27
SICI:
0148-7299(1997)70:1<24:CIWBAX>2.0.ZU;2-K
Fonte:
ISI
Lingua:
ENG
Soggetto:
ATAXIA-TELANGIECTASIA GENE; IMMUNODEFICIENCY; SENSITIVITY; RADIATION; DISORDER;
Keywords:
ATAXIA TELANGIECTASIA; CHROMOSOME INSTABILITY; NIJMEGEN SYNDROME; BLEOMYCIN;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
17
Recensione:
Indirizzi per estratti:
Citazione:
P. Perezvera et al., "CHROMOSOME INSTABILITY WITH BLEOMYCIN AND X-RAY HYPERSENSITIVITY IN ABOY WITH NIJMEGEN BREAKAGE SYNDROME", American journal of medical genetics, 70(1), 1997, pp. 24-27

Abstract

We report on a Mexican boy with microcephaly, short stature, and a high frequency of chromosome aberrations with rearrangements involving chromosomes 7 and 14, typical of ataxia telangiectasia (AT) patients. He had neither ataxia nor telangiectasia, and his immunological status and serum alpha fete protein (AFP) level were normal. Bleomycin hypersensitivity, which has been demon-strated in AT patients, was tested inthe patient using AT and normal subjects forcomparison, The frequencyof spontaneously occurring chromosome aberrations in lymphocyte cultures was significantly higher in the patient and the AT patient than inthe normal subject. Four cells from the patient showed structural rearrangements involving chromosomes 7 or 14, with breakpoints typical for AT. When exposed to 5.0 mu g bleomycin, the lymphocytes from the AT patient showed the highest sensitivity to this agent; our patient had an intermediate sensitivity. In both patients several rearrangements involving chromosomes 7 and 14 were scored, while none were observed inthe normal subject. A colony survival assay (CSA) [Hue et al., 1994: Cancer Res 54:2544-2547], using a lymphoblastoid cell line (LCL) derived from our patient, showed a survival fraction (SF) of 7%, which is in the same range as in AT patients. The clinical picture, together with the cytogenetic and radiosensitivity results, suggests that our patient fits the variable spectrum of Nijmegen breakage syndrome. (C) 1997Wiley-Lies, Inc.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 02/04/20 alle ore 19:15:56