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Titolo:
CLINICAL AND GENETIC FEATURES OF ATAXIA-TELANGIECTASIA
Autore:
BUNDEY S;
Indirizzi:
UNIV BIRMINGHAM,BIRMINGHAM MATERN HOSP,CLIN GENET UNIT BIRMINGHAM B152TG W MIDLANDS ENGLAND
Titolo Testata:
International journal of radiation biology
fascicolo: 6, volume: 66, anno: 1994, supplemento:, S
pagine: 23 - 29
SICI:
0955-3002(1994)66:6<23:CAGFOA>2.0.ZU;2-X
Fonte:
ISI
Lingua:
ENG
Soggetto:
NIJMEGEN BREAKAGE SYNDROME; CHROMOSOMAL INSTABILITY DISORDER; OCULAR MOTOR APRAXIA; WITHOUT-TELANGIECTASIA; NORMAL INTELLIGENCE; IMMUNODEFICIENCY; PHENOTYPE; VARIANT; RADIOSENSITIVITY; COMPLEMENTATION;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Science Citation Index Expanded
Citazioni:
42
Recensione:
Indirizzi per estratti:
Citazione:
S. Bundey, "CLINICAL AND GENETIC FEATURES OF ATAXIA-TELANGIECTASIA", International journal of radiation biology, 66(6), 1994, pp. 23-29

Abstract

There are several variants of ataxia-telangiectasia (A-T): classical A-T with marked radiation sensitivity; classical A-T with intermediatelevels of radiation sensitivity; mild A-T with intermediate levels ofradiation sensitivity; A-T without telangiectasia; A-T without oculomotor apraxia; and A-T with microcephaly. These disorders are probably caused by different allelic mutations, because affected sibs resemble the index patients, and because there is an association of certain haplotypes of 11q22-23 with specific phenotypes. The Nijmegen Breakage Syndrome, with its lack of ataxia, seems on clinical grounds to be a different disorder. Although A-T is almost always inherited as an autosomal recessive, there are some unusual features; an unexpectedly low parental consanguinity rate, an incidence in sibs that is < 0.25, and occurrence of disease in many different races and in the offspring of mixed race unions. Moreover, looking at haplotypes from 63 UK patients, there is a remarkably low incidence of homozygosity. An autosomal recessive condition that is deficient in parental consanguinity, and in homozygosity for the region around the gene, can be explained by J. H. Edwards' hyopothesis that homozygosity for alleles at a neighbouring locus are lethal early in embryogenesis. Other possible mechanisms to explain the unusual genetic features are discussed.

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Documento generato il 25/11/20 alle ore 17:27:15