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| Molecular Mechanisms and Detection Methods of Pathogenic Submicroscopic CNVs and Recent Advances |
QUAN Bi1,ZHANG Qiang1,2,**( ) |
1 Hematology Laboratory, Shengjing Hospital of China Medical University, Shenyang 110022, China
2 Guangxi Zhuang Autonomous Region Maternal and Child Health Hospital, Guangxi Birth Defects Prevention and Control Institute, Nanning 530000, China |
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Abstract Copy number variations (CNVs) are genomic rearrangements characterized by the increase or decrease in copy numbers of genomic segments that are typically longer than a few thousand base pairs. They are submicroscopic deletions and duplications, and segmental duplications. CNVs are associated with various diseases such as human birth defects, developmental disorders, and cancer, representing one of the significant mechanisms underlying these conditions. A comprehensive understanding of CNVs in the genome is essential for better comprehension of the relationship between genes and diseases, genetic-environmental interactions, and the correlation between genomic variations and species evolution. Therefore, research on diseases related to CNVs has emerged as a critical area in medical genetics. This review summarizes the molecular mechanisms, detection methods, and recent advances in the pathogenicity of submicroscopic CNVs.
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Received: 08 October 2023
Published: 16 January 2024
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