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...
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...
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...
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 underlyingNBNgene (c.657_661del5) the disease is encountered mos...
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断裂综合征(Nijmegen breakage syndrome,NBS)是一种罕见的常染色体隐性遗传病,以小头畸形、轻度至中度矮小、面部畸形(突出的鼻梁和鼻子、倾斜的前额、大耳朵和下颌后缩)为特征。患者常有卵巢早衰、免疫功能低下,易合并恶性肿瘤,与NBN基因突变有关[ 1 ]。Nijmegen断裂综合征样病(OMIM :613078)患者与Nijmegen断...
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 ) ...
Nijmegen breakage syndrome (NBS) is a rare autosomal recessive disorder, characterized by spontaneous chromosomal instability with predisposition to immunodeficiency and cancer. We present a repeated NBS in two sons from one woman after two marriages. We describe the clinical data, cytogenetic, and mole...
Nijmegen breakage syndrome (NBS) is characterized by progressive microcephaly, intrauterine growth retardation and short stature, recurrent sinopulmonary infections, an increased risk for cancer, and premature ovarian failure in females. Developmental milestones are attained at the usual time during the ...
研究发现,NBN基因突变会诱发Nijmegen断裂综合征(Nijmegen breakage syndrome,NBS),此病是一种少见的常染色体隐性遗传病,其显著特征是患者具有严重的免疫缺陷,患者的... 孙屏 - 《苏州大学》 被引量: 0发表: 2016年 NBS1功能研究进展 NBS1基因突变可导致一种以染色质不稳定为特征的Nijmegen断裂综合征(NBS)。研究...