Molecular diagnosis and preimplantation genetic testing for chromosome 1q21.1 recurrent microduplication

As the development of molecular diagnostic methods, a large number of clinically relevant or disease-related copy number variations (CNVs) could be detected, and the demand for genetic counselling and clinical treatment is also increasing. For patients with pathogenic or likely pathogenic CNVs, prei...

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Bibliographic Details
Main Authors: Cuiting Peng, Han Chen, Fan Zhou, Hong Yang, Yutong Li, Yuezhi Keqie, Xu Zhao, He Wang, Ting Hu, Shanling Liu, Jun Ren, Xinlian Chen
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-03-01
Series:Frontiers in Genetics
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Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2025.1522406/full
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