Schaaf-Yang综合征(Schaaf-Yang syndrome,SYS)是一种以发育迟缓、智力障碍、肌张力低下、喂养困难、关节挛缩以及自闭症谱系障碍为主要特征的罕见的印记遗传病,曾被命名为Prader-Willi-like综合征。SYS于2013年由美国贝勒医学院Schaaf和Yang首次报道,全球患病率<1/1000000。 SYS患者几乎普遍存在肌张力低下,导致该病的许...
Schaaf-Yang综合征(Schaaf-Yang syndrome,SYS)是一类以生长发育落后、智力减退、肌张力低下、喂养困难、关节挛缩及孤独症谱系障碍为主要特征的印记遗传性疾病,最早由Schaaf报道,是由MAGEL2基因15q11.2区域变异所致[1]。MAGEL2基因为母源印记基因,即母系等位基因高度甲基...
本文报道了1例新生儿期发病的Schaaf-Yang综合征(Schaaf-Yang syndrome, SYS)病例。患儿,女,第2胎第2产,出生时缺氧窒息,生后持续严重呼吸困难,入院诊断为窒息、脑病、先天性心脏病、肺炎、败血症、黄疸、先天性喉软骨发育不全、声带麻痹。转入...
Schaaf-yang综合征是英文Schaaf-yang 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Schaaf-yang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》,该病属于皮肤-毛发-指甲疾病。
Schaaf‐Yang syndromeSchaaf‐Yang Syndrome (SYS) is a genetic disorder caused by truncating pathogenic variants in the paternal allele of the maternally imprinted, paternally expressed gene MAGEL2 , located in the Prader‐Willi critical region 15q11‐15q13. SYS is a neurodevelopmental disorder that ...
MAGEL2 encodes the L2 member of the melanoma-associated antigen gene (MAGE) protein family, truncating mutations of which can cause Schaaf-Yang syndrome, an autism spectrum disorder. MAGEL2 is also inactivated in Prader–Willi syndrome, which overlaps clinically and mechanistically with Schaaf–Yang ...
Clinical characteristics and genetic analysis of a case of infantile Schaaf-Yang syndrome due to a heterozygous variant of MAGEL2 gene 引用 收藏 分享 摘要 目的探讨1例Schaaf-Yang综合征(SYS)患儿的诊疗过程与遗传学分析。方法以2020年6月10日就诊于湖南省儿童医院的1例SYS患儿作为研究对象。对患儿及其父母...
Schaaf-Yang syndrome shows a Prader-Willi syndrome-like phenotype during infancyvariants and protein domain structures. Truncating variants found in our cohort and previously reported in literature (RefSeq ). The six variants identified in our patients with Sanger sequencing confirmation are shown above ...
Schaaf-Yang syndromeSchaaf-Yang Syndrome (SYS) is a genetic disorder caused by truncating pathogenic variants in the paternal allele of the maternally imprinted, paternally expressed gene MAGEL2, located in the Prader-Willi critical region 15q11-15q13. SYS is a neurodevelopmental disorder that has ...
Schaaf-Yang综合征(Schaaf Yang syndrome,SYS)是一种遗传性神经发育障碍性疾病,是由于15号染色体MAGEL2基因缺失突变引起的基因组印记疾病^([1]).本病主要临床表现为生长发育迟缓,智力障碍,肌张力低下,喂养困难,关节挛缩,以及自闭症谱系障碍等^([2]).陆相朋河南中医药大学第一附属医院代晓愉复旦大学附属儿科医院廉...