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Titolo:
POSSIBLE NEW VARIANT OF NIJMEGEN BREAKAGE SYNDROME
Autore:
DERKALOUSTIAN VM; KLEIJER W; BOOTH A; AUERBACH AD; MAZER B; ELLIOTT AM; ABISH S; USHER R; WATTERS G; VEKEMANS M; EYDOUX P;
Indirizzi:
MONTREAL CHILDRENS HOSP,DEPT PEDIAT,DIV MED GENET,2300 TUPPER ST MONTREAL PQ H3H 1P3 CANADA MONTREAL CHILDRENS HOSP,DEPT PEDIAT,F CLARKE FRASER CLIN GENET UNIT MONTREAL PQ H3H 1P3 CANADA MONTREAL CHILDRENS HOSP,DEPT PEDIAT,DIV CLIN IMMUNOL & ALLERGY MONTREAL PQ H3H 1P3 CANADA MONTREAL CHILDRENS HOSP,DEPT PEDIAT,DIV ONCOL MONTREAL PQ H3H 1P3 CANADA MONTREAL CHILDRENS HOSP,DEPT PEDIAT,DIV NEUROL MONTREAL PQ H3H 1P3 CANADA MONTREAL CHILDRENS HOSP,DEPT PATHOL,DIV CYTOGENET MONTREAL PQ H3H 1P3CANADA MCGILL UNIV,DEPT HUMAN GENET MONTREAL PQ CANADA ROYAL VICTORIA HOSP,DEPT PEDIAT,DIV NEONATOL MONTREAL PQ H3A 1A1 CANADA ERASMUS UNIV ROTTERDAM,DEPT CLIN GENET NL-3000 DR ROTTERDAM NETHERLANDS ROCKEFELLER UNIV,LAB HUMAN GENET & HEMATOL NEW YORK NY 10021
Titolo Testata:
American journal of medical genetics
fascicolo: 1, volume: 65, anno: 1996,
pagine: 21 - 26
SICI:
0148-7299(1996)65:1<21:PNVONB>2.0.ZU;2-Y
Fonte:
ISI
Lingua:
ENG
Soggetto:
CHROMOSOMAL INSTABILITY DISORDER; ATAXIA-WITHOUT-TELANGIECTASIA; FANCONI-ANEMIA-REGISTRY; IMMUNODEFICIENCY; HYPERSENSITIVITY; REARRANGEMENTS; SENSITIVITY; DEFICIENCY; DIAGNOSIS; PATIENT;
Keywords:
NIJMEGEN BREAKAGE SYNDROME; CHROMOSOME BREAKS; RADIORESISTANT DNA SYNTHESIS; MICROCEPHALY; CANCER;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
34
Recensione:
Indirizzi per estratti:
Citazione:
V.M. Derkaloustian et al., "POSSIBLE NEW VARIANT OF NIJMEGEN BREAKAGE SYNDROME", American journal of medical genetics, 65(1), 1996, pp. 21-26

Abstract

We report on a child with microcephaly, small facial and body size, and immune deficiency. The phenotype is consistent with Nijmegen breakage syndrome (NBS), with additional clinical manifestations and laboratory findings not reported heretofore. Most investigations, including the results of radiation-resistant DNA synthesis, concurred with the diagnosis of NBS. Cytogenetic analysis documented abnormalities in virtually all cells examined. Along with the high frequency of breaks and rearrangements of chromosomes 7 and 14, we found breakage and monosomies involving numerous other chromosomes. Because of some variation in the clinical presentation and some unusual cytogenetic findings, we suggest that our patient may represent a new variant of Nijmegen breakagesyndrome. (C) 1996 Wiley-Liss, Inc.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 25/11/20 alle ore 17:57:11