Prenatal diagnosis of 17q12 copy number variants in fetuses via chromosomal microarray analysis - A retrospective cohort study and literature review
Our study shows that HEK and DO are the most predominant presentations of 17q12 deletion and duplication, respectively, and cardiac structural abnormalities may be associated with the latter. Although 17q12 CNVs have incomplete penetrance and variable expressivity and may be mainly involved in neurodevelopmental disorders, their short-term prognosis appears positive.
Authors
- You Wang (ORCID: https://orcid.org/0000-0002-5405-1255)
- Lushan Li (ORCID: https://orcid.org/0000-0001-9450-6376)
- Huanyi Chen (ORCID: https://orcid.org/0000-0003-0220-8692)
- Ruibin Huang (ORCID: https://orcid.org/0000-0001-8929-7805)
- Shujuan Yan (ORCID: https://orcid.org/0000-0001-5676-9052)
- Xiangyi Jing (ORCID: https://orcid.org/0000-0001-7703-723X)
- Chunling Ma
- Fang Fu
- Hang Zhou (ORCID: https://orcid.org/0000-0002-1233-5065)
- Jianqin Lu (ORCID: https://orcid.org/0000-0002-5877-619X)
- Zhen Li (ORCID: https://orcid.org/0000-0001-8037-4245)
- Ru Li (ORCID: https://orcid.org/0000-0002-9756-793X)
- Fei Guo (ORCID: https://orcid.org/0000-0001-8346-0798)
- Dong‐Zhi Li
- Liyuan Liu (ORCID: https://orcid.org/0000-0003-4737-1995)
- Can Liao (ORCID: https://orcid.org/0000-0003-0463-7124)
- Fucheng Li (ORCID: https://orcid.org/0000-0002-5245-7542)
- Jin Han
Institutions
- Southern Medical University (CN)
- Guangzhou Medical University (CN)
Publication Details
- Journal
- Heliyon
- Published
- 2024-08-19
- DOI
- https://doi.org/10.1016/j.heliyon.2024.e36558
- Citations
- 3
- Primary Topic
- Genomic variations and chromosomal abnormalities
- Type
- article
- Field-Weighted Citation Impact
- 1.65
Funders
- National Natural Science Foundation of China
- Guangzhou Municipal Science and Technology Project
- National Key Research and Development Program of China
- Basic and Applied Basic Research Foundation of Guangdong Province