NIJMEGEN BREAKAGE SYNDROME

Abstract

Nijmegen breakage syndrome (NBS) is a rare autosomal recessive syndrome of chromosomal instability mainly characterized by microcephaly at birth, dysmorphic facial features, combined immunodeficiency and predisposition to malignancies. Due to a founder mutation in the underlying NBN gene (c.657_661del5) the disease is encountered most frequently among Slavic populations. We report on a patient with NBS complicated acute leukemia.

Keywords

• nijmegen breakage syndrome
• chromosomal instability
• immunodeficiency
• microcephaly