Nijmegen Breakage Syndrome
Nijmegen breakage syndrome (NBS) is characterized by progressive microcephaly, recurrent respiratory tract infections, increased risk for cancer, and premature ovarian failure in females. Additional diagnostic criteria include dysmorphic facial features, decline in intellectual ability, growth retardation and short stature.
Approximately 40% of affected individuals have developed malignancies before age 20, predominantly Non-Hodgkin lymphomas of B and T cells, but also solid tumors.
NBS is inherited in an autosomal recessive manner.
Indications for genetic testing:
- Confirmation of clinical diagnosis
- Carrier status detection of known mutation
- Prenatal diagnosis for known familial mutation
- Genetic counseling