Eleven Polish patients with microcephaly, immunodeficiency, and chromosomal instability: the Nijmegen breakage syndrome

Am J Med Genet. 1995 Jul 3;57(3):462-71. doi: 10.1002/ajmg.1320570321.


We report on 11 patients from 8 independent families (3 pairs of sibs) with a complex clinical pattern including microcephaly, peculiar "bird-like" face, growth retardation, and, in some cases, mild-to-moderate mental deficiency. Most of the patients have recurring respiratory tract infections. One girl has developed B-cell lymphoma. A detailed anthropometric study of 15 physical parameters, including 3 cephalic traits, was performed. It was possible to study the chromosomes of PHA-stimulated lymphocytes in all of the patients. We found structural aberrations with multiple rearrangements, preferentially involving chromosomes 7 and 14 in a proportion of metaphases in all individuals. Profound humoral and cellular immune defects were observed. Serum AFP levels were within normal range. Radioresistant DNA synthesis was strongly increased in all 8 patients who were hitherto studied in this respect. Our patients fulfill the criteria of the Nijmegen breakage syndrome, which belongs to the growing category of ataxia telangiectasia-related genetic disorders. In light of the increased predisposition to malignancy in this syndrome, an accurate diagnosis is important for the patient.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Adolescent
  • Anthropometry
  • Ataxia Telangiectasia / genetics
  • Ataxia Telangiectasia / immunology
  • Ataxia Telangiectasia / pathology
  • Child
  • Child Behavior
  • Chromosome Aberrations*
  • Chromosome Disorders*
  • Chromosomes, Human, Pair 14
  • Chromosomes, Human, Pair 7
  • DNA / biosynthesis
  • Face / abnormalities
  • Female
  • Humans
  • Immunologic Deficiency Syndromes / genetics*
  • Immunologic Deficiency Syndromes / immunology
  • Immunologic Deficiency Syndromes / pathology
  • Intellectual Disability / genetics
  • Male
  • Microcephaly / genetics*
  • Microcephaly / immunology
  • Microcephaly / pathology
  • Pedigree
  • Poland
  • Radiation Tolerance / genetics
  • Syndrome
  • alpha-Fetoproteins / metabolism


  • alpha-Fetoproteins
  • DNA