Nijmegen断裂综合征(Nijmegen breakage syndrome,NBS)患者的主要体征是畸形的小头,在出生时就非常明显,而且随着年龄增长而变得更加畸形。流行病学患病率和发病率仍是未知。目前全球已经报道了150多名患者,多为在中欧和东欧的南斯拉夫人。Nijmegen断裂综合征出现的病因...
Nijmegen破坏综合征是英文Nijmegen breakage syndrome的中文翻译。该病是一种基因病、遗传病。佳学基因通过基因解码找到了导致这一疾病发生的基因。可以通过基因检测阻止Nijmegen破坏综合征在后代或者二胎中的出现。根据《人的基因序列变化与人体疾病表征》,该病属于胎儿发育或出生异常。
英文名称 :Nijmegen breakage syndrome 概述 Nijmegen断裂综合征也是一种常染色体隐性遗传性疾病,临床表现与AT也相似,但部分患儿可伴有小头畸形和生长发育迟滞。由MRE11-RAD50-NBS1(MRN)复合物中(见图1)的NBS1基因突变所引起。NBS1基因定位于染色体8q21,由16个外显子组成,编码754个氨基酸的NBS1蛋白,又称为Nibri...
Introduction: Nijmegen breakage syndrome (NBS) is an autosomal recessive disorder, characterized by microcephaly, immunodeficiency, and impaired DNA repair. NBS is most prevalent among Slavic populations, including Ukraine. Our study aimed to comprehensively assess the prevalence, d...
Nijmegen-breakage-syndrome网络断裂综合征 网络释义 1. 断裂综合征 Nijmegen 断裂综合征 (Nijmegen breakage syndrome): nbnNonaka 肌病 (Nonaka myopathy): gne Norwalk 病毒感染, 抗性 (N…www.eiaab.cn|基于3个网页 隐私声明 法律声明 广告 反馈 © 2024 Microsoft...
Introduction: Nijmegen breakage syndrome (NBS) is an autosomal recessive disorder, which belongs to the DNA repair disorders. It is characterized by microcephaly, typical facial appearance, immunodeficiency, X‐ray hypersensitivity and predisposition of cancer. Material and methods: Neuropathological ...
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. Due to a founder mutation in the underlying NB
以"Nijmegen breakage syndrome-like disorder"为检索词,检索Web of Science及PubMed,共检索到4篇9例有关Nijmegen断裂综合征样病的报道,其中2例为Rad50基因突变,2例为MRE11基因突变,5例为NHEJ1基因突变[ 2 , 3 , 4 , 5 ]。 展开阅读 文献性别诊断年龄突变基因突变位点面部畸形小头畸形反复感染肿瘤国籍 宋...
Therefore we assume that by DNA testing of Czech primary microcephalic children it is possible to detect all Nijmegen breakage syndrome patients to be expected. The age at correct diagnosis was lowered from 7.1 years at the time before DNA testing, to well under 1 year of age. All new ...
Nijmegen breakage syndrome (NBS) is a rare autosomal recessive disease, characterized by microcephaly, growth retardation, immunodeficiency, chromosome instability, radiation sensitivity, and a strong predisposition to lymphoid malignancy. The gene responsible for the development of this syndrome ( NBS1 ) ...