Detection and Genetic Analysis of Small Supernumerary Marker Chromosomes in Prenatal Diagnosis
Utilizing both karyotyping and molecular genetic testing is advantageous for effectively screening and identifying sSMCs. CNV-seq is recommended as an important supplementary method for sSMC identification, thereby providing more detailed genetic counseling for prenatal diagnosis.
Authors
- Pengfei Cai (ORCID: https://orcid.org/0000-0003-4975-4615)
- Yinghua Luo (ORCID: https://orcid.org/0000-0002-5445-7917)
- Jiaolian Ya
- Yuchan Xu
- Yanfei Zeng
- Xiaoni Wei
- Biyu Lu
- Jie Qin (ORCID: https://orcid.org/0000-0002-3801-8068)
- Ling Zhang (ORCID: https://orcid.org/0000-0002-1316-515X)
- Dejian Yuan (ORCID: https://orcid.org/0000-0001-9884-2158)
- Mei Yan (ORCID: https://orcid.org/0000-0002-7509-4262)
Institutions
- Liuzhou Maternal and Child Health Hospital (CN)
- Liuzhou General Hospital (CN)
Publication Details
- Journal
- Cytogenetic and Genome Research
- Published
- 2025-04-29
- DOI
- https://doi.org/10.1159/000546051
- Primary Topic
- Prenatal Screening and Diagnostics
- Type
- article
- Field-Weighted Citation Impact
- 0.00