Analysis of copy number variants detected by sequencing in spontaneous abortion [0.03%]
流产组织拷贝数变异的测序分析及功能研究项目中期进展报告摘要
Anhui Liu,Liyuan Zhou,Yazhou Huang et al.
Anhui Liu et al.
Background: The incidence of spontaneous abortion (SA), which affects approximately 15-20% of pregnancies, is the most common complication of early pregnancy. Pathogenic copy number variations (CNVs) are recognized as pot...
Efficiency of copy number variation sequencing combined with karyotyping in fetuses with congenital heart disease and the following outcomes [0.03%]
产前超声心动病胎儿拷贝数变异测序联合核型分析效率及结局分析
Xuezhen Wang,Jing Sha,Yu Han et al.
Xuezhen Wang et al.
Background: Both copy number variant-sequencing (CNV-seq) and karyotype analysis have been used as powerful tools in the genetic aetiology of fetuses with congenital heart diseases (CHD). However, CNV-seq brings clinician...
Loss of heterozygosity impacts MHC expression on the immune microenvironment in CDK12-mutated prostate cancer [0.03%]
杂合性丧失影响CDK12突变型前列腺癌免疫微环境中MHC的表达
William Lautert-Dutra,Camila M Melo,Luiz P Chaves et al.
William Lautert-Dutra et al.
Background: In prostate cancer (PCa), well-established biomarkers such as MSI status, TMB high, and PDL1 expression serve as reliable indicators for favorable responses to immunotherapy. Recent studies have suggested a po...
Noninvasive prenatal testing for the detection of fetal chromosome 17 microduplication: clinical implications and findings [0.03%]
无创产前检测在胎儿染色体17微重复检出中的临床意义及结果分析
Ye Shi,Fang-Xiu Zheng,Jing Wang et al.
Ye Shi et al.
Background: Noninvasive prenatal testing (NIPT) is widely used to screen for fetal aneuploidies. However, there are few reports of using NIPT for screening chromosomal microduplications and microdeletions. This study aim...
Clinical outcomes of screen-positive genome-wide cfDNA cases for trisomy 20: results from the global expanded NIPT Consortium [0.03%]
全球扩展的NIPT联盟中筛查出的染色体21三体阳性全基因组cfDNA案例的临床结果
Erica Soster,Tamara Mossfield,Melody Menezes et al.
Erica Soster et al.
Trisomy 20 has been shown to be one of the most frequent rare autosomal trisomies in patients that undergo genome-wide noninvasive prenatal testing. Here, we describe the clinical outcomes of cases that screened positive for trisomy 20 foll...
Mosaic derivative chromosomes at chorionic villi (CV) sampling are expression of genomic instability and precursors of cryptic disease-causing rearrangements: report of further four cases [0.03%]
羊水穿刺检测中的镶嵌衍生染色体是基因组不稳定的表现及隐匿的致病重排的前兆：四个新病例报告
Giulia Vitetta,Laura Desiderio,Ilaria Baccolini et al.
Giulia Vitetta et al.
Mosaic chromosomal anomalies arising in the product of conception and the final fetal chromosomal arrangement are expression of complex biological mechanisms. The rescue of unbalanced chromosome with selection of the most viable cell line/s...
X chromosome rearrangement associated with premature ovarian insufficiency as diagnosed by molecular cytogenetic methods: a case report and review of the literature [0.03%]
分子细胞遗传学方法诊断的与卵巢早衰相关的X染色体易位一例报告及文献复习
Zhifang Peng,Renqi Yang,Qing Liu et al.
Zhifang Peng et al.
Background: Premature ovarian insufficiency (POI) is a clinical condition characterized by ovarian dysfunction in women under 40. The etiology of most POI cases remains unidentified and is believed to be multifactorial, i...
L N Kolbasin,T A Dubrovskaya,G B Salnikova et al.
L N Kolbasin et al.
Background: Potocki-Lupski syndrome (PTLS, OMIM # 610883) is a rare genetic developmental disorder resulting from a partial heterozygous microduplication at chromosome 17p11.2. The condition is characterized by a wide var...
11p13 microduplication: a differential diagnosis of Silver-Russell syndrome? [0.03%]
11p13微重复可能导致银 Russell 综合征样的表型？
Asmaa K Amin,Jeremias Krause,Thomas Eggermann
Asmaa K Amin
Background: Silver-Russel syndrome (SRS) is a congenital disorder which is mainly characterized by intrauterine and postnatal growth retardation, relative macrocephaly, and characteristic (facial) dysmorphisms. The majori...
Yuqi Shao,Saisai Yang,Lin Cheng et al.
Yuqi Shao et al.
Objective: The primary object of this study is to analyze chromosomal abnormalities in miscarriages detected by copy number variants sequencing (CNV-Seq), establish potential pathways or genes related to miscarriages, and...