A novel approach to detecting microduplication in split hand/foot malformation type 3 at the single-cell level: SHFM as a case study
This study establishes a new strategy for identifying microduplications or microdeletions at the single-cell level in clinical preimplantation genetic testing, enhancing the efficiency and accuracy of diagnosing microduplication or microdeletion diseases during IVF-PGT and prenatal diagnosis.
Authors
- Xin Dong (ORCID: https://orcid.org/0000-0002-7112-0224)
- Lidong Zeng (ORCID: https://orcid.org/0000-0001-7189-883X)
- Jia‐Cheng Lu
- Jiawei Xu (ORCID: https://orcid.org/0000-0003-4336-7972)
- Xiangrui Meng (ORCID: https://orcid.org/0000-0001-5736-2502)
- Yaqian Wang (ORCID: https://orcid.org/0000-0002-7734-3787)
- Wenbo Li (ORCID: https://orcid.org/0009-0004-8574-7046)
- Jia Guo
- Yang Li (ORCID: https://orcid.org/0000-0002-6227-5160)
Institutions
- Henan Academy of Sciences (CN)
- The Sixth People's Hospital of Zhengzhou (CN)
- First Affiliated Hospital of Zhengzhou University (CN)
Publication Details
- Journal
- Orphanet Journal of Rare Diseases
- Published
- 2024-10-31
- DOI
- https://doi.org/10.1186/s13023-024-03386-5
- Primary Topic
- Prenatal Screening and Diagnostics
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Innovative Research Group Project of the National Natural Science Foundation of China
- National Natural Science Foundation of China
- Zhengzhou University
- First Affiliated Hospital of Zhengzhou University
- University Scientific Research and Innovation Team Program of Sichuan