Rare case of PLAG1::RUNX1 fusion mimicking classical t(8;21): the value of optical genome mapping in acute myeloid leukemia [0.03%]
PLAG1::RUNX1融合的罕见病例模拟经典t(8;21): 急性髓系白血病中光学基因组映射的价值
Nada Assaf,Shireen Alawieh,Rawan Hammoud et al.
Nada Assaf et al.
Background: Gene fusions define leukemia subtypes, predicting prognosis and guiding treatment. The classical t(8;21)(q22;q22) translocation results in the RUNX1::RUNX1T1 fusion, characteristic of favorable risk acute myel...
Long-read sequencing unmasks a cryptic three-way translocation resulting in an ETV6::PDGFRB fusion [0.03%]
长读取测序揭示了一个隐藏的三向易位导致的ETV6::PDGFRB融合基因
Joseph Tripodi,Douglas Tremblay,Daiva Ahire et al.
Joseph Tripodi et al.
Background: Myeloid/Lymphoid Neoplasms (MLN) with eosinophilia and PDGFRB rearrangements are rare but distinct hematologic malignancies driven by the constitutive activation of the PDGFRB tyrosine kinase through gene fusi...
Cytogenomics and optical genome mapping approaches characterize a derivative interstitial monosomy 18p due to a maternal complex intrachromosomal rearrangement [0.03%]
细胞基因组学和光学基因组测绘技术表征由母亲复杂的染色体内交换产生的衍生的18p片段单体综合征病例
Ludovico Graziani,Silvia Genovese,Maria Luce Genovesi et al.
Ludovico Graziani et al.
Background: Monosomy 18p (MIM: 146390) is a well-known chromosomal disorder associated with intellectual disability, short stature, and non-specific craniofacial features resulting from partial or total deletion of the sh...
Rare single PML::RARA fusion transcript from insertion on derivative chromosome 17 in acute promyelocytic leukemia [0.03%]
急性早幼粒细胞白血病中17号衍生染色体插入产生的罕见单拷贝PML::RARA融合转录本
Ping Yang,Daniel Cassidy,Catalina Amador et al.
Ping Yang et al.
Over 90% of patients with acute promyelocytic leukemia (APL) harbor the typical translocation characterized by the dual fusion of PML::RARA and RARA::PML transcripts. Here, we report a case with a single fusion of PML::RARA formed on der(17...
Prenatal diagnosis of 1q21.1 microdeletions and microduplications: a retrospective case series [0.03%]
1q21.1微缺失和重复的产前诊断：一组回顾性病例
Ziyang Liu,Song Yi,Manman Li et al.
Ziyang Liu et al.
Objective: This study aimed to characterize the prenatal features, inheritance patterns, and outcomes of 1q21.1 copy number variations (CNVs) and refine prenatal counseling strategies. ...
Genetic analysis of an asymptomatic female with a large Xp deletion revealed insights into the X chromosome inactivation pattern: a case report [0.03%]
一项无症状女性的大X短臂缺失的基因分析揭示了关于X染色体失活模式的新见解：病例报告
Li-Jun Zhang,Wen-Lan Liu,Shu-Yi Shao et al.
Li-Jun Zhang et al.
Background: X-linked disorders caused by skewed X chromosome inactivation (XCI) result in phenotypic heterogeneity, which is rarely reported. XCI testing is not widely used in clinical cases, making risk assessment for ca...
Isodicentric Y chromosome with SRY duplication in a female with complete gonadal dysgenesis [0.03%]
具有SRY重复的异中心体Y染色体与完全性生殖腺发育不全综合征患者性别分化异常的关系研究
Arash Salmaninejad,Zahra Yaghoubi,Tahereh Haghzad et al.
Arash Salmaninejad et al.
Background: Sexual differentiation and development rely upon many genetic and environmental factors and any disruption of these can lead to Differences/Disorders of Sex Development (DSDs). DSDs are a diverse group of hete...
Maternal uniparental disomy of chromosome 15 with concurrent paternal non-chromosome 15 marker chromosome: a rare presentation of prader-willi syndrome [0.03%]
15号染色体母系单亲二倍体伴发父系非15号染色体标记染色体：普拉德-威利综合征罕见表现形式一例报告
Yang Nannan,Yang Yang,Wang Yan et al.
Yang Nannan et al.
Background: Prader-Willi Syndrome (PWS) is a complicated genetic disorder demonstrating a variety of clinical phenotypes. Using molecular cytogenetics approaches to detect the deletions of the paternal 15q11-q13 region an...
Potential role of SLC6A3 in neurodevelopmental impairments associated with corpus callosum abnormalities: insights from CNV analysis and clinical phenotyping [0.03%]
SLC6A3在与胼胝体异常相关的神经发育障碍中的潜在作用：来自CNV分析和临床表型的启示
Shan-Yu Liu,Wei Huang,Hui-Lin Ou et al.
Shan-Yu Liu et al.
Objective: This study aimed to investigate the role of pathogenic copy number variations (CNVs) in neurodevelopmental impairments among children with corpus callosum abnormalities (CCAs). We focused primarily on SLC6A3 as...
Clarification of the clinical significance of an intron variant in a case of Peutz-Jeghers syndrome with abnormal RNA splicing of STK11 [0.03%]
佩琼-杰格斯综合征病例中STK11基因异常剪接的内含子变异的临床意义探讨
Aki Ishikawa,Masahiro Gotoh,Mineko Ushiama et al.
Aki Ishikawa et al.
Peutz–Jeghers syndrome is an autosomal dominant disease characterized by intestinal polyposis, mucocutaneous pigmentation, and an increased risk of various types of cancer. Germline mutations in STK11 (LKB1), which encodes serine/threonine...