Optical genome mapping identifies novel ENOX2::RUNX1 t(X;21)(q26.1;q22.12) rearrangement in acute myeloid leukemia-myelodysplasia related: first case report [0.03%]
光学基因组映射识别出急性髓系白血病-骨髓增生异常相关的新颖ENOX2::RUNX1 X染色体和21染色体重排：首例报道
Giby V George,Sarmad Ali,Chauncey R Syposs et al.
Giby V George et al.
Background: Acute myeloid leukemia-myelodysplasia related (AML-MR) is a biologically and clinically distinct subtype of AML that arises in the context of prior dysplasia. It is characterized by adverse cytogenetics and po...
Optical genome mapping identifies a balanced inversion disrupting DMD in a patient with Duchenne muscular dystrophy [0.03%]
光学基因组学在Duchenne肌营养不良症患者中鉴定出一种影响DMD的平衡易位
Tuuni Turtinen,Pirjo Isohanni,Anna-Kaisa Anttonen et al.
Tuuni Turtinen et al.
Background: Duchenne muscular dystrophy (DMD) is a severe disorder that primarily affects males due to its X-linked recessive inheritance. It is caused by pathogenic variants of the DMD gene, most commonly exonic deletion...
A de Novo 2q23.1-2q23.3 duplication in a neonate with anemia, thrombocytopenia, and hypospadias: clinical and genomic characterization [0.03%]
染色体2q23.1-2q23.3新型重复与新生儿贫血、血小板减少和阴茎下裂的临床及基因组特征分析
Bing Zhang,Chengyun Zhang,Peng Chen et al.
Bing Zhang et al.
Background: Copy number variations (CNVs) of uncertain significance (VUS) are increasingly identified through prenatal and postnatal genetic testing, yet their clinical interpretation remains challenging. We report a neon...
Revealing the impact of partial gene duplications in ASH1L: integration of optical genome mapping and RNA sequencing [0.03%]
整合光学基因组测图和RNA序列分析揭示ASH1L部分基因复制的影响
Grégoire Blavier,François Lecoquierre,Anne-Marie Guerrot et al.
Grégoire Blavier et al.
Introduction: Partial gene duplications are structural variants that are challenging to interpret, particularly in the context of neurodevelopmental disorders. The ASH1L gene, associated with autism spectrum disorders and...
Kaufman oculocerebrofacial syndrome: case report of a UBE3B splice site variant and clinical overview of reported patients [0.03%]
考夫曼眼脑面综合征：UBE3B剪接位点变异病例报告及既往报道患者的临床特点综述
Abedulrhman S Abdelfattah,Mohammad Abu Saleh
Abedulrhman S Abdelfattah
Background: Kaufman oculocerebrofacial syndrome (KOS; OMIM #244450)is a rare autosomal recessive disorder caused by pathogenic biallelic variants in UBE3B, characterized by craniofacial dysmorphism, global developmental d...
SLC8A1 as a novel susceptibility gene in facilitating tendinopathy: insights into its mechanisms from Mendelian randomization and experimental validation [0.03%]
从孟德尔随机化和实验验证的角度探讨SLC8A1作为新的易感基因促进跟腱病的机制
Junjie Tang,Weijie Wu,Ziqi Zhou et al.
Junjie Tang et al.
Background: Patients with tendinopathy (TD) have expressed dissatisfaction with the efficacy of the first-line treatment, indomethacin. This research aims to identify key biomarkers in TD and investigate their underlying ...
Neutropenia is a consistent and the earliest manifestation of Cohen's syndrome: three cases and two novel variants in VPS13B gene [0.03%]
柯亨综合征中中性粒细胞减少是一致且最早的表现：两个VPS13B基因新突变的报道
Aysel Tekmenuray-Unal,Ayse Oz,Sultan Aydın
Aysel Tekmenuray-Unal
Neutropenia has been recognized as a common feature of Cohen Syndrome, but its role as an early manifestation has not been fully elucidated. In this report, we present three patients diagnosed with Cohen Syndrome who were referred for neutr...
Cytogenetic profile of chronic myeloid leukaemia patients resistant to imatinib at tertiary level in Indonesia [0.03%]
印度尼西亚三级医疗机构慢性粒细胞白血病伊马替尼耐药患者的染色体核型分析结果
Ikhwan Rinaldi,Melva Louisa,Elly Yanah Arwanih et al.
Ikhwan Rinaldi et al.
Background: Chronic Myeloid Leukemia (CML) is primarily driven by the Philadelphia chromosome, producing the BCR::ABL1 fusion protein. Although imatinib significantly improved CML outcomes, resistance remains a key challe...
Proximal 4p deletion syndrome in a woman with intellectual disability: a case report and literature review [0.03%]
4号染色体短臂远端缺失综合征一位患者的临床表型及相关文献综述
Liqiang Wei,Yu He,Denghe Liu et al.
Liqiang Wei et al.
Deletions in chromosome 4p can lead to two distinct phenotypes, Wolf-Hirschhorn syndrome (WHS) and proximal 4p deletion syndrome. While WHS, associated with distal deletions, has well-characterized phenotypic features, proximal 4p deletion ...
16p13.11 microduplication in 14 fetuses: prenatal diagnosis and postnatal follow-up [0.03%]
14例胎儿16p13.11微重复的产前诊断和产后随访
Yuchun Pan,Yu Hu,Chonglan Gao et al.
Yuchun Pan et al.
Background: 16p13.11 Microduplication is a rare genetic disorder with variable expression and incomplete penetrance, primarily reported in adults and children, with limited information available on fetal cases. This study...