1999年5月17日 · Nijmegen breakage syndrome (NBS) is characterized by progressive microcephaly, early growth deficiency that improves with age, recurrent respiratory infections, an increased risk for malignancy (primarily lymphoma), and premature ovarian failure in females.

Nijmegen breakage syndrome (NBS) is a rare autosomal recessive [2] congenital disorder causing chromosomal instability, probably as a result of a defect in the double Holliday junction DNA repair mechanism and/or the synthesis dependent strand annealing mechanism for repairing double strand breaks in DNA (see Homologous recombination).

Nijmegen breakage syndrome is a condition characterized by short stature, an unusually small head size (microcephaly), distinctive facial features, recurrent respiratory tract infections, an increased risk of cancer, intellectual disability, and other health problems.

2023年2月22日 · Nijmegen breakage syndrome (pronounced NY-may-gen) is a rare genetic disorder. The syndrome is caused by a genetic mutation that affects your body’s ability to repair broken or damaged DNA ...

A rare, genetic chromosomal instability syndrome presenting at birth with microcephaly, dysmorphic facial features which become more noticeable with age, growth delay, recurring sinopulmonary infections and extremely high frequency of malignancies.

2023年8月11日 · In most cases, the genome instability is associated with immunodeficiency, a predisposition to develop cancer, and premature aging [1]. This topic review will discuss Nijmegen breakage syndrome (NBS; MIM #251260), which is a chromosomal breakage syndrome associated with immunodeficiency [2,3].

Nijmegen breakage syndrome (NBS) is a rare autosomal recessive syndrome of chromosomal instability mainly characterized by microcephaly at birth, combined immunodeficiency and predisposition to malignancies.