Identification of a complex chromosomal insertion using the chromosome conformation based karyotyping technique for the implementation of PGT-SR
This case demonstrates the feasibility of C-Moka technique in assisting CCRs diagnosis and directly identifying breakpoints to construct haplotypes without family lineage or reference embryo pre-tests.
Authors
- Ye Hong (ORCID: https://orcid.org/0000-0001-5800-0917)
- Dehua Cheng
- Huiying Li (ORCID: https://orcid.org/0000-0001-5633-5270)
- Tingting Zheng (ORCID: https://orcid.org/0000-0003-3037-8664)
- Q Li
- Liangqun Xie
- Yuxia Yang
- Sijia Lu
Institutions
- Reproductive & Genetic Hospital CITIC-Xiangya (CN)
- Suzhou Research Institute (CN)
- Yichang Central People's Hospital (CN)
Publication Details
- Journal
- BMC Genomics
- Published
- 2026-01-07
- DOI
- https://doi.org/10.1186/s12864-025-12515-8
- Primary Topic
- Genomic variations and chromosomal abnormalities
- Type
- article
- Field-Weighted Citation Impact
- 0.00