Clinical and molecular characterization of 18p deletion syndrome and a novel case with reproductive disorder [0.03%]
18号染色体短臂缺失综合征的临床和分子特征及一例伴生殖系统异常的新病例报告
Xia Cheng,Liang Xu,Jiatao Wu et al.
Xia Cheng et al.
Optical genome mapping reveals a recurrent translocation, t(14;16), in T/myeloid mixed phenotype acute leukemia: report of two cases [0.03%]
光学基因组映射揭示了T/髓样混合表型急性白血病中反复出现的易位t(14;16)：两例报告
Joanna Lum,Jessica Anderson-Calleja,Kimberly Van Dine et al.
Joanna Lum et al.
Farnoush Aliazami,Dariush D Farhud,Marjan Zarif-Yeganeh et al.
Farnoush Aliazami et al.
Background: Turner syndrome (TS) is a common chromosomal abnormality caused by the complete or partial absence of one X chromosome. It affects approximately 1 in ~ 1,200 to 2,500 female births. In this case report, we exa...
Comprehensive analysis of copy number variations in congenital heart defects Tunisian patients: chromosomal microarray analysis insights [0.03%]
Tunisia患者先天性心脏病拷贝数变异的全面分析：染色体微阵列分析见解
Rim Khelifi,Houcemeddine Othmane,Houda Ajmi et al.
Rim Khelifi et al.
Background: Congenital heart defects represent a major global health burden, affecting nearly one million newborns annually. Identifying the underlying genetic causes is essential for improved diagnosis, patient managemen...
Clinical diagnosis and genetic analysis of a rare case of Duchenne muscular dystrophy and spinal muscular atrophy [0.03%]
杜氏肌营养不良症和脊髓性肌肉萎缩症罕见复合杂合变异病例的临床诊断与基因分析
Yingwen Liu,Minmin Wang,Keji Zhang et al.
Yingwen Liu et al.
Objective: To explore the clinical and genetic features both spinal muscular atrophy (SMA) and Duchenne muscular dystrophy (DMD) diagnosed in a child. Met...
Prenatal diagnosis of distal Xq28 duplication syndrome: case reports and literature review [0.03%]
远端Xq28重复综合征的产前诊断：病例报告和文献回顾
Yuanyuan Zhang,Fagui Yue,Ruizhi Liu
Yuanyuan Zhang
Background: Xq28 duplications are a significant cause of X-linked intellectual disability (XLID). While the postnatal features of distal Xq28 duplication syndrome are well characterized, the prenatal phenotypes remain poo...
Intrachromosomal insertion as a diagnostic challenge: a hidden structural rearrangement causing recurrent duplication and deletion [0.03%]
染色体内插入的诊断挑战：隐藏的结构重排导致反复出现的拷贝数增删事件
Rie Kawamura,Yui Shichiri,Hideki Suzuki et al.
Rie Kawamura et al.
Background: Intrachromosomal insertion is a rare form of structural chromosomal rearrangement that often cannot be accurately delineated by conventional G-banding, making it difficult to predict reproductive outcomes. In ...
Performance of expanded non-invasive prenatal testing for fetal aneuploidies and copy-number variations in 9,708 pregnancies [0.03%]
基于游离DNA的孕中期扩展无创产前检测在中国汉族孕妇中的应用研究：一项前瞻性队列研究
Feng Suo,Jingjing Wang,Mingming Liao et al.
Feng Suo et al.
Background: Expanded non-invasive prenatal testing (E-NIPT) extends traditional screening for trisomies 21, 18, and 13 to sex-chromosome aneuploidies (SCAs), rare autosomal aneuploidies (RAAs), and 92 pathogenic subchromo...
A methodological study on the process of prenatal optical genome mapping: focusing on cell culture and quality control [0.03%]
产前光学基因组图谱研究方法学探索：聚焦于细胞培养与质量控制
Xueting Yang,Kaili Yin,Mengmeng Li et al.
Xueting Yang et al.
Background: Optical genome mapping (OGM) has demonstrated significant potential in detecting structural variations (SVs) and has been comprehensively evaluated both retrospectively and prospectively in prenatal diagnosis....
Elucidating the pathogenic mechanism of a pedigree with complex rearrangements on chromosome 4 using optical genome mapping technology: a study on the genetics and functional pathways in a child with developmental delay [0.03%]
基于光学基因组测序技术解析四号染色体复杂重排家系的致病机制：一例发育迟缓患儿的遗传学及功能通路研究
Jiangfeng Qin,Yanfei Zeng,Songqiang Qin et al.
Jiangfeng Qin et al.
Introduction: Chromosomal structural variations (SVs) are important causes of neurodevelopmental disorders in children, but traditional detection techniques often fail to accurately resolve the precise breakpoints and pat...