Differentiation of Nijmegen breakage syndrome from Fanconi anemia

V.B. Rao, L. Kerketta, S. Korgaonkar and K. Ghosh
Institute of Immunohaematology (ICMR), K.E.M Hospital Campus, Parel, Mumbai-12, India
Corresponding author: V.B. Rao
E-mail: vbaburao@hotmail.com

Genet. Mol. Res. 6 (3): 622-626 (2007)
Received May 10, 2007
Accepted July 12, 2007
Published September 30, 2007

ABSTRACT. Nijmegen breakage syndrome (NBS) is a rare auto-somal recessive condition with chromosomal instability. Clinical and biological overlap between Fanconi anemia and ataxia telangiectasia has been reported. We report two cases of NBS born to consanguineous parents. Case one had NBS and Falconi anemia clinical features but relatively little chromosome breakage. The second case had mild NBS features, while cytogenetic evaluation with mitomycin C induction showed chromosome damage. Chromosomal analysis of bone marrow cells revealed tetraploidy, which indicates progression towards leukemia. On the basis of clinical and cytogenetic evaluation, these two cases were confirmed as NBS. However, detailed molecular studies are essential for accurate diagnosis and management of this disease.

Key words: Chromosomal breakage, Nijmegen breakage syndrome, Fanconi anemia, Tetraploidy