Background Wolf–Hirschhorn syndrome (WHS) is a contiguous gene deletion syndrome involving variable size deletions of the 4p16.3 region. Seizures are frequently, but not always, associated with WHS.

Background Low-pass genome sequencing (LP GS) is an alternative to chromosomal microarray analysis (CMA). However, validations of LP GS as a prenatal diagnostic test for amniotic fluid are rare.

FDA-NCI Clinical Proteomics Program, Laboratory of Pathology, National Cancer Institute, National Institutes of Health, Bethesda, Maryland 20892, Office of Cellular and Gene Therapy, Center for ...

为探究产前诊断为平衡染色体重排（BCRs）患儿的表型差异，研究人员利用 SVseq 技术分析 5 例 BCRs 患儿的结构变异（SVs）及致病性。发现 2 例为 BCRs，3 例为复杂染色体重排（CCRs），仅 1 例因 CYLD 基因破坏出现异常表型。该研究凸显 SVseq 检测优势及 BCRs 产前评估 ...

To assess the possibility that a foetus may be born with a genetic disorder or a pregnancy-related complication, prenatal screening is made available to all pregnant women. As a result, it assists in ...

CARLSBAD, Calif.--(BUSINESS WIRE)--Thermo Fisher Scientific Inc., the world leader in serving science, announced today that the Applied Biosystems™ CytoScan™ Dx Assay and Applied Biosystems™ ...

We aimed to describe the frequency and yield of genetic testing in supravalvar aortic stenosis (SVAS) following negative evaluation for Williams‐Beuren syndrome (WS). When WS is excluded, gene ...

† McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, United States ‡ Department of Biological Chemistry, Johns Hopkins University ...

Introduction: Small supernumerary marker chromosomes (sSMCs) are infrequent findings in prenatal diagnostics, however they pose a great challenge for prenatal genetic counseling. Methods: We report ...

有任何疑问、批评及指导，请毫不犹豫地私信作者！ 严重的遗传病是导致出生缺陷的主要原因，其新生儿发病率约为1%~2% ...

Chromosomal microarray analysis (CMA) provides an opportunity to understand genetic causes of congenital heart disease (CHD). The methods for describing cardiac phenotypes in patients with CMA ...

1 The First Affiliated Hospital of Yangtze University, Jingzhou, China. 2 Department of Pathology, The Central Hospital of Xiaogan, Xiaogan, China. 3 Hubei Provincial Clinical Research Center for ...