Rayi Appaji, Hozayen Sameh
Charleston Area Medical Center
Sovah Health
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).
染色体不稳定综合征是一组遗传性疾病，与染色体自发不稳定和断裂或对脱氧核糖核酸（DNA）损伤剂的反应有关。这些综合征大多很重要，因为它们与不同程度的免疫缺陷、传染病以及患某些恶性肿瘤的风险相关。以下染色体不稳定综合征虽罕见但有详细描述：共济失调毛细血管扩张症。布卢姆综合征。范可尼贫血。奈梅亨断裂综合征。其他罕见综合征包括共济失调毛细血管扩张症样疾病；免疫缺陷、着丝粒不稳定和面部异常综合征；科凯恩综合征；毛发硫营养不良；着色性干皮病；DNA连接酶I缺乏症； 缺乏症；以及DNA重组酶修复缺陷（DNA-磷脂酰肌醇3激酶、Artemis、DNA连接酶4、Cernunnos）。
