Nijmegen breakage syndrome
Definition
Nijmegen breakage syndrome (NBS) is a condition in which chromosomes are susceptible to breakage and symptoms include short stature, small head size, and increased risk for learning disabilities/mental retardation, infections, and cancer.
Description
Nijmegen breakage syndrome gets its name from the fact that the first patient was described in Nijmegen in the Netherlands. A registry of patients is maintained there, and patients with the syndrome are susceptible to having their chromosomes break. These breaks result in rearrangements of chromosomes called translocations, in which two chromosomes exchange pieces, and inversions, in which a...
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