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Titolo:
NIJMEGEN-BREAKAGE-SYNDROME - A PROGRESS REPORT
Autore:
WEEMAES CMR; SMEETS DFCM; VANDERBURGT CJAM;
Indirizzi:
UNIV NIJMEGEN HOSP,DEPT PEDIAT,POB 9101 6500 HB NIJMEGEN NETHERLANDS UNIV NIJMEGEN HOSP,DEPT HUMAN GENET 6500 HB NIJMEGEN NETHERLANDS
Titolo Testata:
International journal of radiation biology
fascicolo: 6, volume: 66, anno: 1994, supplemento:, S
pagine: 185 - 188
SICI:
0955-3002(1994)66:6<185:N-APR>2.0.ZU;2-4
Fonte:
ISI
Lingua:
ENG
Soggetto:
CHROMOSOMAL INSTABILITY DISORDER; ATAXIA-TELANGIECTASIA; IMMUNODEFICIENCY; REARRANGEMENTS; CANCER; CLONES; GENES;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Science Citation Index Expanded
Citazioni:
19
Recensione:
Indirizzi per estratti:
Citazione:
C.M.R. Weemaes et al., "NIJMEGEN-BREAKAGE-SYNDROME - A PROGRESS REPORT", International journal of radiation biology, 66(6), 1994, pp. 185-188

Abstract

We report the findings in the first 30 patients with the Nijmegen Breakage Syndrome (NBS). All had microcephaly from birth, short stature and a 'bird-like' face. Most of them suffered from recurrent respiratory tract infections. Intelligence was normal in half of the patients. Serum immunoglobulins were disturbed in 22/25 patients investigated (IgG deficiency, IgA deficiency, IgG2 and IgG4 deficiency) and T cell defects were found in 23/24 patients tested. The immunodeficiency appearsto be more severe than in A-T. Chromosomal aberrations in cultured T lymphocytes occurred preferentially in chromosomes 7 and 14 and at thesame breakpoints as in A-T. However, the percentage of chromosome 7 and/or 14 rearrangements was significantly higher in NBS patients than in A-T patients (p < 0.0005). Inv(7) was amongst the most frequently detected aberration in NBS cells as it is in A-T cells. Large clones ofcells with rearrangements of chromosome 14 were rare in NBS. Of the first 19 reported patients eight have already developed a malignancy: seven a lymphoma and one a meningioma. It is noteworthy that both the tendency to express rearrangements of chromosomes 7 and 14 and the tendency to develop a malignancy is much higher in NBS than in A-T. Whether there is any causal relationship is as yet unknown.

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Documento generato il 05/12/20 alle ore 01:36:20