A NEW CHROMOSOMAL INSTABILITY DISORDER: THE NIJMEGEN BREAKAGE SYNDROME
Corresponding Author
C. M. R. WEEMAES
Departments of Paediatrics and Human Genetics, University of Nijmegen, Nijmegen, The Netherlands
*Department of Paediatrics St. Radboud Hospital University of Nijmegen Nijmegen The NetherlandsSearch for more papers by this authorT. W. J. HUSTINX
Departments of Paediatrics and Human Genetics, University of Nijmegen, Nijmegen, The Netherlands
Search for more papers by this authorJ. M. J. C. SCHERES
Departments of Paediatrics and Human Genetics, University of Nijmegen, Nijmegen, The Netherlands
Search for more papers by this authorP. J. J. VAN MUNSTER
Departments of Paediatrics and Human Genetics, University of Nijmegen, Nijmegen, The Netherlands
Search for more papers by this authorJ. A. J. M. BAKKEREN
Departments of Paediatrics and Human Genetics, University of Nijmegen, Nijmegen, The Netherlands
Search for more papers by this authorR. D. F. M. TAALMAN
Departments of Paediatrics and Human Genetics, University of Nijmegen, Nijmegen, The Netherlands
Search for more papers by this authorCorresponding Author
C. M. R. WEEMAES
Departments of Paediatrics and Human Genetics, University of Nijmegen, Nijmegen, The Netherlands
*Department of Paediatrics St. Radboud Hospital University of Nijmegen Nijmegen The NetherlandsSearch for more papers by this authorT. W. J. HUSTINX
Departments of Paediatrics and Human Genetics, University of Nijmegen, Nijmegen, The Netherlands
Search for more papers by this authorJ. M. J. C. SCHERES
Departments of Paediatrics and Human Genetics, University of Nijmegen, Nijmegen, The Netherlands
Search for more papers by this authorP. J. J. VAN MUNSTER
Departments of Paediatrics and Human Genetics, University of Nijmegen, Nijmegen, The Netherlands
Search for more papers by this authorJ. A. J. M. BAKKEREN
Departments of Paediatrics and Human Genetics, University of Nijmegen, Nijmegen, The Netherlands
Search for more papers by this authorR. D. F. M. TAALMAN
Departments of Paediatrics and Human Genetics, University of Nijmegen, Nijmegen, The Netherlands
Search for more papers by this authorAbstract
ABSTRACT. Weemaes, C. M. R., Hustinx, T. W. J., Scheres, J. M. J. C, van Minister, P. J. J., Bakkeren, J. A. J. M. and Taalman, R. D. F. M. (Departments of Paediatrics and Human Genetics, University of Nijmegen, Nijmegen, The Netherlands.) Acta Paediatr Scand, 70:557,.–A 10-year-old boy with microcephaly, stunted growth, mental retardation, cafe-au-lait spots and immunodeficiency is described. An older brother of the patient had the same clinical symptoms and a more severe immunodeficiency. Cytogenetic studies in the proband revealed a typical form of chromosome instability with multiple rearrangements of chromosomes 7 and 14. Such abnormalities were also present, though in very low frequencies, in the father and three of the phenotypically normal sibs. The similarity of the symptoms in the two sibs, the close consanguinity of their parents and the results of the cytogenetic studies in the family favour the hypothesis that the disorder is an inherited one. The clinical features and the chromosome aberrations as present in the proband are usually found in chromosomal breakage syndromes, but it was possible to exclude each of the classical chromosomal breakage syndromes on clinical and/or cytogenetic grounds.
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