Possible new variant of Nijmegen breakage syndrome

Am J Med Genet. 1996 Oct 2;65(1):21-6. doi: 10.1002/(SICI)1096-8628(19961002)65:1<21::AID-AJMG3>3.0.CO;2-0.


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 breakage syndrome.

Publication types

  • Case Reports
  • Research Support, U.S. Gov't, P.H.S.
  • Review

MeSH terms

  • Cells, Cultured
  • Child, Preschool
  • Chromosome Aberrations / genetics*
  • Chromosome Breakage*
  • Chromosome Disorders
  • Chromosomes, Human, Pair 14*
  • Chromosomes, Human, Pair 7*
  • Craniofacial Abnormalities / genetics
  • DNA / radiation effects
  • Gamma Rays
  • Humans
  • Male
  • Syndrome


  • DNA