【摘 要】
：
OBJECTIVE: To present chromosomal microarray analysis (CMA) characterization of 22q11.2 microdeletion presenting with increased nuchal translucency (NT) and congenital heart defects.CASE REPORT: We re
【机 构】
：
Center for Prenatal Diagnosis, The Third Affiliated Hospital of Guang Zhou Medical University, Key L
论文部分内容阅读
OBJECTIVE: To present chromosomal microarray analysis (CMA) characterization of 22q11.2 microdeletion presenting with increased nuchal translucency (NT) and congenital heart defects.CASE REPORT: We report on a fetus presenting with increased nuchal translucency at 12+3 weeks gestation.
其他文献
特发性基底节钙化(Idiopathic basal ganglia calcification,IBGC)是一种以基底节及大脑其他部位钙化为特征的神经系统遗传疾病,患者可出现运动障碍及认知、精神异常,尚无有效药物治疗。本研究通过家系连锁分析和候选基因克隆,发现导致该疾病发生的第一个致病基因SLC20A2,目前发现有40％的IBGC患者因携带SLC20A2突变致病,提示该基因为IBGC最常见的致病基
Osterix (Osx) , a C2H2-type zinc-finger containing transcription factor, plays an essential role in controlling osteoblast differentiation and bone formation.The precise molecular regulation of Osx ex
DAX1 is an orphan nuclear receptor that plays a key role in the development and function of the adrenal and reproductive axes.Mutations in the gene encoding DAX1 (NROB1) result in X-linked adrenal hyp
The hereditary dentin defects, dentinogenesis imperfecta(DGI)and dentin dysplasia (DD) comprise a group of autosomal-dominant genetic conditions and the molecular basis of such dental disorders in all
Background: The aim was to determine the degree of chromosomal aberrations in the sperm of men with hepatitis C, develop a better experimental model which could facilitate further studies assessing th
Copy number variations (CNVs) have increasingly been reported to cause, or predispose to, human disease.However, a large fraction of these CNVs have not been accurately characterized at the single-bas
Epidemiological evidence indicates that artificial reproduction technology (ART) may be associated with several epigenetic diseases such as Beckwith-Wiedemann syndrome (BWS) or Silver-Russell syndrome
The mammalian protocadherin (Pcdh) a, b, and g gene clusters provide a striking example of CTCF/cohesin-mediated enhancer/promoter interactions in cell-specific gene expression in the brain.The CTCF/c
肢带型肌营养不良(limb girdle muscular dystrophy,LGMD),是一组遗传模式和临床症状具有高度异质性的常染色体遗传病,主要特征为进行性的盆带肌和肩胛带肌的无力和萎缩.根据遗传方式,可分为LGMD1型(常染色体显性遗传)和LGMD2型(常染色体隐性遗传). LGMD2G,于青少年期起病,主要表现为进行性的四肢近端肌及下肢远端肌的无力和萎缩,肌活检有或无镶边空泡,肌酸激酶
目的：探讨可能与中国汉族人群SCA3/MJD患者发病年龄(AO)变异有关的其他基因.方法：收集已发病的SCA3/MJD患者共802例,应用PCR和毛细管电泳检测10个PolyQ相关基因的CAG重复拷贝数(包括ATXN1,ATXN2,ATXN3,CACNA1A,ATXN7,TBP,ATN1,IT15,KCNN3,RAI1),应用协方差分析、多元线性回归分析其他9个基因的CAG重复拷贝数与SCA3/M