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Distal 10q trisomy with copy number gain in chromosome region 10q23.1–10q25.1: the Wnt signaling pathway is the most pertinent to the gene content in the region of copy number gain: a case report

机译：远端10q三体性在染色体区域10q23.1–10q25.1中具有拷贝数增加：Wnt信号通路与拷贝数增加区域中的基因含量最相关：一个病例报告

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BackgroundComplete or partial trisomy 10q involves a duplication of 10q, or the long arm of chromosome 10. Distal 10q trisomy is a well-recognized and defined but rare genetic syndrome in which duplication of distal segments of 10q results in a pattern of malformations. Although abnormal chromosome phenotypes are commonly detected by visualization of chromosomes by traditional cytogenetic techniques, this approach is marginal in both diagnostic sensitivity and potential for biological interpretation, thus making implementation of advanced techniques and analysis methods an important consideration in a health service.

机译：背景技术完整的或部分的三体性10q涉及10q或10号染色体的长臂的重复。远端的10q三体性是一种公认的且定义明确但罕见的遗传综合症，其中10q的远侧节段重复导致畸形。尽管通常通过传统的细胞遗传学技术将染色体可视化来检测异常的染色体表型，但是这种方法在诊断敏感性和生物学解释潜力方面均处于边缘地位，因此使先进技术和分析方法的实施成为卫生服务中的重要考虑因素。

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期刊名称 BMC Research Notes
作者
Siew-Lee Wong; Hsin-Hsu Chou; Chung-Nun Chao; Joseph Hang Leung; Yu-Hsin Chen; Cheng-Da Hsu;
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年(卷),期 2015(8),-1
年度 2015
页码 250
总页数 8
原文格式 PDF
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Distal 10q trisomy Chromosome 10q23.1–10q25.1 Array-comparative genomic hybridization Copy number variation Copy number variation region Database for annotation visualization and integrated discovery (DAVID) GO analysis KEGG pathway analysis Wnt signaling pathway WNT8B LZTS2 NFKB2 PTEN;

机译：远端10q三体性;染色体10q23.1–10q25.1;阵列比较基因组杂交;拷贝数变异;拷贝数变异区域;注释数据库;可视化和整合发现（DAVID）;GO分析;KEGG途径分析;Wnt信号途径;WNT8B;LZTS2;NFKB2;PTEN;

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1. 染色体3p14.2-14.3区域一个与鼻咽癌相关新基因的克隆 [J] . 田芳, 陈主初, 段朝军, 癌症（英文版） . 2000,第011期
2. Distal 10q trisomy with copy number gain in chromosome region 10q23.1–10q25.1: the Wnt signaling pathway is the most pertinent to the gene content in the region of copy number gain: a case report [J] . Siew-Lee Wong, Hsin-Hsu Chou, Chung-Nun Chao, BMC research notes . 2015,第1期

机译：远端10q三体性在染色体区域10q23.1–10q25.1中具有拷贝数增加：Wnt信号通路与拷贝数增加区域中的基因含量最相关：一个病例报告
3. Analysis of genetic aberrations on chromosomal region 8q21-24 identifies E2F5 as an oncogene with copy number gain in prostate cancer. [J] . Jin Zhao, Xin-Yang Wu, Xiao-Hui Ling, Medical oncology . 2013,第1期

机译：染色体区域8q21-24上的遗传畸变分析确定E2F5为前列腺癌中拷贝数增加的致癌基因。
4. The potential of copy number gains and losses, detected by array-based comparative genomic hybridization, for computational differential diagnosis of B-cell lymphomas and genetic regions involved in lymphomagenesis | Haematologica [J] . Ichiro Takeuchi, Hiroyuki Tagawa, Akira Tsujikawa, Haematologica . 2009,第1期

机译：基于阵列的比较基因组杂交检测的拷贝数收益和损失的潜力，用于淋巴瘤的B细胞淋巴瘤和遗传区域的计算鉴别诊断哈及炎
5. Genome Copy Number Feature Selection Based on Chromosomal Regions Alterations and Chemosensitivity Subtypes [C] . J. Vargas, Rodrigo Mora-Rodríguez, F. Siles 2018 IEEE International Work Conference on Bioinspired Intelligence . 2018

机译：基于染色体区域变化和化学敏感性亚型的基因组拷贝数特征选择
6. The potential of copy number gains and losses detected by array-based comparative genomic hybridization for computational differential diagnosis of B-cell lymphomas and genetic regions involved in lymphomagenesis [O] . Ichiro Takeuchi, Hiroyuki Tagawa, Akira Tsujikawa, 2009

机译：通过基于阵列的比较基因组杂交检测到的拷贝数增减的潜力可用于B细胞淋巴瘤和涉及淋巴瘤发生的遗传区域的计算机鉴别诊断
7. Distal 10q trisomy with copy number gain in chromosome region 10q23.1–10q25.1: the Wnt signaling pathway is the most pertinent to the gene content in the region of copy number gain: a case report [O] . 2015

机译：远端10q三体性在染色体区域10q23.1–10q25.1中具有拷贝数增加：Wnt信号通路与拷贝数增加区域中的基因含量最相关：一个病例报告

Distal 10q trisomy with copy number gain in chromosome region 10q23.1–10q25.1: the Wnt signaling pathway is the most pertinent to the gene content in the region of copy number gain: a case report

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