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Nijmegen breakage syndrome (NBS) (also known as Berlin breakage syndrome and Seemanova syndrome) is a rare syndrome characterised by chromosomal instability, probably as a result of a defect in the Double Holliday junction DNA repair mechanism.
The name derives from the Dutch city Nijmegen where the condition was first described.[1]
Most people with NBS have West Slavic origins. The largest number of them live in Poland.
It is characterized by microcephaly, a distinct facial appearance, short stature, immunodeficiency, radiation sensitivity and a strong predisposition to lymphoid malignancy. [2][3]
It is caused by a mutation in the NBS1 gene. [4]
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