Mosaic tetrasomy 9p detected by CNV-seq but missed by traditional karyotyping in a prenatal case without dysmorphic features
It is recommended to conduct CNV-seq or CMA on uncultured amniocytes in conjunction with karyotype analysis on cultured amniocytes. The presence of mosaic tetrasomy 9p during amniocentesis may result in either a benign condition or an adverse outcome, necessitating informed decision-making for pregnant women facing such circumstances.
Authors
- Xiaoling Guo (ORCID: https://orcid.org/0000-0002-8547-4285)
- Xingkun Yang (ORCID: https://orcid.org/0000-0002-5907-8182)
- Miaoling Ou
- Tingting Xiao (ORCID: https://orcid.org/0000-0002-6507-5420)
- Chao Li (ORCID: https://orcid.org/0000-0001-9196-1859)
- Yuan Zhou (ORCID: https://orcid.org/0000-0002-9365-7460)
- Xiaodan Zhu
- Linghua Zhang (ORCID: https://orcid.org/0000-0003-1692-6038)
- Xiang Huang (ORCID: https://orcid.org/0000-0002-4456-5893)
Institutions
- Foshan University (CN)
- Foshan Maternity and Child Health Care Hospital (CN)
Publication Details
- Journal
- Molecular Cytogenetics
- Published
- 2025-07-14
- DOI
- https://doi.org/10.1186/s13039-025-00720-9
- Primary Topic
- Prenatal Screening and Diagnostics
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- National Natural Science Foundation of China
- Foshan Science and Technology Bureau