Chromosome Instability Syndromes

Chromosomal instability syndromes are a group of inherited disorders associated with chromosomal instability and breakage spontaneously or in response to deoxyribonucleic acid (DNA)-damaging agents. Most of these syndromes are significant because they are associated with variable degrees of immunodeficiency, infectious disease, and the risk of developing certain malignancies. The following chromosomal instability syndromes are rare but well-described: Ataxia-telangiectasia . Bloom syndrome . Fanconi anemia . Nijmegen breakage syndrome . Other rare syndromes include ataxia telangiectasia-like disorder; immunodeficiency, centromeric instability, and facial anomalies syndromes;Cockayne syndrome; trichothiodystrophy; xeroderma pigmentosum; DNA ligase I deficiency; deficiency; and DNA recombinase repair defects (DNA-phosphatidylinositol 3-kinase, Artemis, DNA ligase 4, Cernunnos).