| Abstrakt: |
The article presents a case study of Nijmegen breakage syndrome wherein an 8-year old girl was hospitalised due to recurrent respiratory infections and microcephaly. The article gives details of family history, physical examination, laboratory tests, radiographies taken, and blood cultures taken during the diagnosis of the disease. Nijmegen breakage syndrome (NBS) was confirmed by mutation analysis of NBS1 gene and the patient was found homozygous for the mutation 657del5. The article presents a brief discussion on NBS which is a rare autosomal recessive genetic disorder that is characterized by stunted growth, microcephaly, immunodeficiency and spontaneous chromosome instability and a peculiar predisposition to cancer development. |
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