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Titolo:
SEVERE MICROCEPHALY WITH NORMAL INTELLECTUAL-DEVELOPMENT - THE NIJMEGEN-BREAKAGE-SYNDROME
Autore:
GREEN AJ; YATES JRW; TAYLOR AMR; BIGGS P; MCGUIRE GM; MCCONVILLE CM; BILLING CJ; BARNES ND;
Indirizzi:
ADDENBROOKES NHS TRUST,DEPT CLIN GENET,BOX 134 CAMBRIDGE CB2 2QQ ENGLAND UNIV CAMBRIDGE,DEPT PATHOL CAMBRIDGE ENGLAND UNIV BIRMINGHAM,SCH MED,DEPT CANC STUDIES BIRMINGHAM B15 2TT W MIDLANDS ENGLAND ADDENBROOKES NHS TRUST,DEPT CYTOGENET CAMBRIDGE ENGLAND ADDENBROOKES NHS TRUST,DEPT PAEDIAT CAMBRIDGE ENGLAND
Titolo Testata:
Archives of Disease in Childhood
fascicolo: 5, volume: 73, anno: 1995,
pagine: 431 - 434
SICI:
0003-9888(1995)73:5<431:SMWNI->2.0.ZU;2-H
Fonte:
ISI
Lingua:
ENG
Soggetto:
CHROMOSOMAL INSTABILITY DISORDER; ATAXIA-TELANGIECTASIA; NORMAL INTELLIGENCE; IMMUNODEFICIENCY; COMPLEMENTATION; LINKAGE; PATIENT;
Keywords:
NIJMEGEN BREAKAGE SYNDROME; MICROCEPHALY; CHROMOSOME BREAKAGE; ATAXIA TELANGIECTASIA;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
18
Recensione:
Indirizzi per estratti:
Citazione:
A.J. Green et al., "SEVERE MICROCEPHALY WITH NORMAL INTELLECTUAL-DEVELOPMENT - THE NIJMEGEN-BREAKAGE-SYNDROME", Archives of Disease in Childhood, 73(5), 1995, pp. 431-434

Abstract

A brother and sister are described with severe microcephaly of prenatal onset, normal intellectual and motor development, chromosomal breakage and cellular immunodeficiency, which is characteristic of the autosomal recessive condition, Nijmegen breakage syndrome. The proband wasa girl who presented at 15 months, with normal developmental milestones and an extremely small head circumference of 36 cm. Twenty per centof her lymphocytes showed spontaneous translocations involving chromosome 7p13, 7q35, 14q11, and 14q32. The lymphocytes also showed excessive x ray induced chromosome damage. She had T cell lymphopenia, but normal immunoglobulins, and a normal cr fetoprotein. A brother was born shortly after her diagnosis was made. He also had extreme microcephalyof 28 cm, with similar spontaneous and x ray induced chromosomal breakage, and T cell lymphopenia. Neither child has clinical evidence of immunodeficiency. To test the hypothesis that Nijmegen breakage syndrome and ataxia telangiectasia are allelic disorders, haplotype analysis was carried out in the family using DNA markers spanning the AT locus on chromosome 11q22. The affected boy had a different haplotype from his affected sister. Thus in this family, the Nijmegen breakage syndrome is not allelic to the ataxia telangiectasia locus on chromosome 11q,and the two conditions are genetically distinct. The normal intellectin these children raises questions about normal brain development in the presence of severe microcephaly.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 05/12/20 alle ore 01:42:09