Possible new variant of Nijmegen breakage syndrome.

  title={Possible new variant of Nijmegen breakage syndrome.},
  author={Vazken M Der Kaloustian and Wim J. Kleijer and Ann Booth and Arleen D. Auerbach and Bruce D Mazer and Alison M Elliott and Sharon Abish and Robert H. Usher and Grant Watters and Michel Vekemans and Patrice Eydoux},
  journal={American journal of medical genetics},
  volume={65 1},
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… CONTINUE READING


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