1. A novel approach to detecting microduplication in split hand/foot malformation type 3 at the single-cell level: SHFM as a case study.
- Author
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Wang, Yaqian, Li, Yang, Zeng, Lidong, Li, Wenbo, Dong, Xin, Guo, Jia, Meng, Xiangrui, Lu, Jiacheng, and Xu, Jiawei
- Subjects
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LIMB reduction defects , *DNA copy number variations , *SINGLE nucleotide polymorphisms , *GENETIC testing , *PRENATAL diagnosis , *NUCLEOTIDE sequencing , *GENE amplification - Abstract
Background: Split hand/foot malformation (SHFM) is a congenital limb deficiency characterized by missing or shortened central digits. Several gene loci have been associated with SHFM. Identifying microduplications at the single-cell level is challenging in clinical practice, and traditional detection methods may lead to misdiagnoses in embryos and pregnant women. Results: In this research, we utilized a low cell count and whole-genome amplification products to employ single nucleotide polymorphism arrays, next-generation sequencing, and third-generation sequencing methods to detect copy number variants of microduplications in a SHFM3 case with limited DNA. Additionally, Karyomapping and combined linkage analysis were conducted to validate the results. Conclusions: 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. [ABSTRACT FROM AUTHOR]
- Published
- 2024
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