Array CGH
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Tissue-specific integrative omics has the potential to reveal new genic elements important for developmental disorders. Methods: Two pediatric patients with global developmental delay and intellectual disability phenotype underwent array-CGH genetic testing, both showing a partial deletion of the DLG2 gene. From independent human and murine omics datasets, we combined copy number variations, histone modifications, developmental tissue-specific regulation, and protein data to explore the molecular mechanism at play.
20p vioraclene 31-03-2024 4 2 Download
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Exon-targeted microarrays can detect small (
15p vioraclene 31-03-2024 5 2 Download
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Array-CGH is the first-tier genetic test both in pre- and postnatal developmental disorders worldwide. Variants of uncertain significance (VUS) represent around 10~15% of reported copy number variants (CNVs). Even though VUS reanalysis has become usual in practice, no long-term study regarding CNV reinterpretation has been reported.
10p vicwell 29-02-2024 3 1 Download
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The 18q-deletion syndrome is a rare congenital chromosomal disorder caused by a partial deletion of the long arm of chromosome 18. The diagnosis of a patient with this syndrome relies on the family medical history, physical examination, developmental assessment, and cytogenetic findings.
7p vitiki 30-01-2024 5 2 Download
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Bài viết trình bày đánh giá kết quả chẩn đoán trước sinh phát hiện bất thường nhiễm sắc thể bằng kỹ thuật array-CGH tại Bệnh viện Phụ Sản Hà Nội. Đối tượng và phương pháp: 306 mẫu dịch ối của các thai phụ có tuổi thai từ trên 16 tuần thai thuộc nhóm nguy cơ cao lệch bội nhiễm sắc thể và siêu âm bất thường hình thái thai.
8p viirenerosenfeld 02-06-2022 14 3 Download
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Mục tiêu của đề tài là chuẩn hóa quy trình kỹ thuật FISH và kỹ thuật Array CGH trên tế bào phôi dư; áp dụng quy trình FISH và Array CGH để sàng lọc một sổ bất thường số lượng nhiễm sắc thể trên các tế bào phôi ngày 3 và ngày 5. Mời các bạn cùng tham khảo nội dung chi tiết.
4p closefriend02 07-10-2021 34 2 Download
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Copy number variations (CNVs) are structural variants consisting of large-scale insertions and deletions of genomic fragments. Exploring CNVs and estimating their effects on phenotypes are useful for genome selection but remain challenging in the livestock.
10p visilicon2711 20-08-2021 9 1 Download
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Copy Number Variations (CNVs) are usually inferred from Single Nucleotide Polymorphism (SNP) arrays by use of some software packages based on given algorithms. However, there is no clear understanding of the performance of these software packages; it is therefore difficult to select one or several software packages for CNV detection based on the SNP array platform.
9p vikentucky2711 26-11-2020 18 0 Download
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The analysis of DNA copy number variants (CNV) has increasing impact in the field of genetic diagnostics and research. However, the interpretation of CNV data derived from high resolution array CGH or NGS platforms is complicated by the considerable variability of the human genome.
8p vioklahoma2711 19-11-2020 6 0 Download
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Small intestinal neuroendocrine tumors (SI-NETs) are typically slow-growing tumors that have metastasized already at the time of diagnosis. The purpose of the present study was to further refine and define regions of recurrent copy number (CN) alterations (CNA) in SI-NETs.
13p vijennie2711 29-09-2020 12 0 Download
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Determining the driving factors and molecular flow-through that define the switch from favorable to aggressive high-risk disease is critical to the betterment of neuroblastoma cure. In this study, we examined the cytogenetic and tumorigenic physiognomies of distinct population of metastatic site- derived aggressive cells (MSDACs) from high-risk tumors, and showed the influence of acquired genetic rearrangements on poor patient outcomes.
13p viamsterdam 18-09-2020 19 1 Download
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Array CGH analysis of breast tumors has contributed to the identification of different genomic profiles in these tumors. Loss of DNA repair by BRCA1 functional deficiency in breast cancer has been proposed as a relevant contribution to breast cancer progression for tumors with no germline mutation.
14p vinaypyidaw2711 26-08-2020 9 2 Download
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Esophageal squamous cell carcinoma (ESCC) is a genetically complex tumor type and is a major cause of cancer-related mortality. The combination of genetics, diet, behavior, and environment plays an important role in the carcinogenesis of ESCC. To characterize the genomic aberrations of this disease, we investigated the genomic imbalances in 19 primary ESCC cases using high-resolution array comparative genomic hybridization (CGH).
7p viwashington2711 04-12-2019 5 0 Download
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Bài viết nhấn mạnh tầm quan trọng của việc ứng dụng kỹ thuật Array-CGH trong việc chẩn đoán, xác định nguyên nhân, tầm soát sớm các bất thường về di truyền góp phần vào việc tham vấn, điều trị, hỗ trợ cho bệnh nhân và gia đình bệnh nhân.
13p vihera2711 03-10-2019 52 1 Download
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There have been great strides in using positional cloning to successfully identify the underlying basis of many Mendelian disorders of children. The severity of even these disorders, however, is greatly affected by genetic modifiers and gene- environment interactions. The molecular pathogenesis of many more complex disorders remains unexplained due to the often complex genetic, epigenetic and environmental interactions involved in their etiology. However, there is reason for optimism.
14p connhobinh 10-12-2012 53 1 Download
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Schizophrenia is a complex disorder with involvement of multiple genes. Methods: In this study, genome-wide screening for DNA copy-number variations (CNVs) was conducted for ten pairs, a total of 20 cases, of affected siblings using oligonucleotide array-based CGH. Results: We found negative symptoms were significantly more severe (p
9p toshiba23 18-11-2011 66 6 Download