Nijmegen Breakage Syndrome
Nijmegen breakage syndrome is a genetic disease characterized by an extreme sensitivity toward ionizing radiation and a high risk for the development of lymphatic tumors.
Nijmegen breakage syndrome (NBS) is a rare genetic disease; inheritance follows an autosomal recessive modus with complete penetrance. Although the birth weight and size of homozygotes are normal, microcephaly and growth retardation soon become apparent and are major symptoms of the disorder. Progressive mental retardation is typical; however, IQ is usually within the normal range during early childhood. A sloping forehead and receding mandible give NBS patients a characteristic facial appearance which becomes more pronounced with age. NBS patients are immunodeficient in both cellular and humoral immune systems leading to frequent infections particularly of the respiratory tract....
KeywordsCell Cycle Checkpoint Ataxia Telangiectasia Patient Cell Nijmegen Breakage Syndrome Autosomal Recessive Modus
- Chrzanowska KH, Gregorek H, Dembowska-Bagińska B, Kalina MA, Digweed M. (2012) Nijmegen breakage syndrome (NBS). Orphanet J Rare Dis 7:13. doi:10.1186/1750-1172-7-13Google Scholar