Preimplantation Genetic Testing for Cornelia de Lange Syndrome with Low-Level Maternal Gonadal Mosaicism for a Sub-Megabase Deletion in China [0.03%]
中国低水平母体生殖细胞镶嵌型亚兆碱基缺失的科内利亚·德兰热综合征的植入前遗传学检测
Lulu Meng,Yan Wang,Junqiang Zhang et al.
Lulu Meng et al.
Purpose: To diagnose and perform preimplantation genetic testing for monogenic disorders (PGT-M) in a Chinese family affected by Cornelia de Lange syndrome type 5, resulting from a microdeletion in Xq13.1q13.2 truncating ...
Genealogical Identification and Short Tandem Repeat-Based Verification of Suspected Consanguinity in Mongolian Families [0.03%]
蒙古族家庭中疑似近亲婚配的谱系识别和短串联重复序列验证
Altansukh Tsend-Ayush,Suvd Tumurbaatar,Buyandelger Baatar et al.
Altansukh Tsend-Ayush et al.
Purpose: The prevalence of consanguineous marriages remains high in several regions worldwide, particularly the Middle East and South Asia, with a reported rate of 58%. However, the prevalence and genetic characteristics ...
Generalized Nevus Lipomatosus Cutaneous Superficialis: A Case Report with Comprehensive Genetic Analysis [0.03%]
综合遗传分析的神经皮肤纤维瘤病合并脂质沉着症一例报告
Ye Qiu,Rina Su,Xiangxi Su et al.
Ye Qiu et al.
Background: Nevus lipomatosus superficialis (NLS) is a rare cutaneous hamartoma characterized by ectopic adipose tissue in the dermis. Its genetic basis remains largely unknown. ...
A Novel Deep-Intronic CFAP44 Variant Underlies Multiple Morphological Abnormalities of the Sperm Flagella [0.03%]
一种新颖的深内含子CFAP44变异导致精子鞭毛形态多种异常
Yaxian Ma,Yuecheng Yang,Tong Zhang et al.
Yaxian Ma et al.
Purpose: Multiple morphological abnormalities of the sperm flagella (MMAF), uncommonly causing primary infertility, are typical features of aberrant spermatozoa flagellum morphologies, which manifest as shortness, absence...
Precise Reproductive Counseling Enabled by Long-Read Sequencing in a Case of a F8 Intron 1 Inversion and Duplication [0.03%]
基于长读测序技术的精准遗传咨询在F8基因第一内含子倒位和重复突变病例中的应用
Yuying Yan,Pengzhen Jin,Lidan Xu et al.
Yuying Yan et al.
Purpose: To demonstrate the clinical value of integrating next-generation sequencing (NGS) with long-read sequencing (LRS) for resolving complex F8 variants and guiding personalized reproductive strategies in Haemophilia ...
Genetic Polymorphisms of Transforming Growth Factor Receptors (TGF-βRI, TGF-βRII) and Risk Factors Associated with Keloid Scars in Burkina Faso: A Cross-Sectional Study [0.03%]
布基纳法索遗传多态性转化生长因子受体（TGF-βRI，TGF-βRII）与 keloid 疤痕相关风险因素：一项横断面研究
Koffi Agbessi Keto,Danielle Belemsigri,Serge Theophile Soubeiga et al.
Koffi Agbessi Keto et al.
Background: The keloids scar is a skin scarring pathology with a higher frequency in the black population. Several genetic polymorphisms, including those of transforming growth factor receptors, have been identified as pr...
Clinical Feasibility of Early First-Trimester Non-Invasive Prenatal Testing: Associations Between Gestational Age, Fetal Fraction, and No-Call Rates [0.03%]
早期孕早期无创产检临床可行性研究：妊娠年龄、胎儿DNA比例和无效检测样本量之间的关系
Trinh The Son,Sang Trieu Tien,Tran Van Khoa et al.
Trinh The Son et al.
Background: Non-invasive prenatal testing (NIPT) based on cell-free fetal DNA (cffDNA) is widely used for screening common fetal aneuploidies. Although fetal fraction (FF) increases with gestational age, the feasibility a...
Outcomes and Management of Pregnancies Screening Positive for Microdeletions 22q11.2, 15q11.2, 1p36, 4p, or 5p: A Retrospective Cohort Study [0.03%]
染色体微缺失（22q11.2，15q11.2，1p36，4p或5p）的妊娠结局及处理：一项回顾性队列研究
D Claire Miller,Devika Chawla,Summer Pierson et al.
D Claire Miller et al.
Purpose: To compare pregnancy outcomes and management between patients screening positive for five microdeletions (microdeletion screen-positive, MDS+) and patients screening negative (microdeletion screen-negative, MDS-)...
Two Distinct Clinical Presentations of Primary Ciliary Dyskinesia (PCD): Diagnostic Utility of Whole-Exome Sequencing in a Genetically Heterogeneous Disorder [0.03%]
原发性纤毛运动障碍(PCD)的两种不同的临床表现:全外显子测序在遗传异质性疾病中的诊断价值
Mateusz Górecki,Ilona Jaszczuk,Monika Lejman
Mateusz Górecki
Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous disorder with variable clinical presentation. In cases where traditional diagnostic tools such as transmission electron microscopy (TEM) or nasal nitric oxide (nNO) measu...
Case Report: Schaaf-Yang Syndrome Milder Phenotype Due to Potential Pathogenic Novel Missense Variant as an Unusual Cause of Obesity in a Pediatric Patient [0.03%]
病例报告：罕见导致小儿肥胖的Schaaf-Yang 综合征潜在致病错义变异新型漏诊轻微表型案例
Dalibor Pastucha,Darina Aleksijevic,Jiri Hyjanek et al.
Dalibor Pastucha et al.
According to OMIM and Orphanet databases, Schaaf-Yang syndrome (SYS) (OMIM: 615547, ORPHA: 398069) is a rare genetic disorder that shares certain clinical features with Prader-Willi syndrome (PWS), including hypotonia, developmental delay, ...