A NEW CHROMOSOMAL INSTABILITY DISORDER: THE NIJMEGEN BREAKAGE SYNDROME

• DOI: 10.1111/j.1651-2227.1981.tb05740.x
• Publication Date: 2008-01-21T21:23:29Z
• Authors: C. M. R. WEEMAES; T. W. J. HUSTINX; J. M. J. C. SCHERES; P. J. J. VAN MUNSTER; J. A. J. M. BAKKEREN; R. D. F. M. TAALMAN
• Keywords: Proband; Nijmegen breakage syndrome; Microcephaly; Chromosome instability

ABSTRACT. Weemaes, C. M. R., Hustinx, T. W. J., Scheres, J. C, van Minister, P. Bakkeren, A. and Taalman, R. D. F. (Departments of Paediatrics Human Genetics, University Nijmegen, The Netherlands.) Acta Paediatr Scand, 70:557,.–A 10-year-old boy with microcephaly, stunted growth, mental retardation, cafe-au-lait spots immunodeficiency is described. An older brother the patient had same clinical symptoms a more severe immunodeficiency. Cytogenetic studies in proband revealed typical form chromosome instability multiple rearrangements chromosomes 7 14. Such abnormalities were also present, though very low frequencies, father three phenotypically normal sibs. similarity two sibs, close consanguinity their parents results cytogenetic family favour hypothesis that disorder an inherited one. features aberrations as present are usually found chromosomal breakage syndromes, but it was possible to exclude each classical syndromes on and/or grounds.