Genetic analysis of partial duplication of the long arm of chromosome 16
We report, for the first time, a patient with partial trisomy 16q validated by multiple genetic tests, including CNV-seq, whole exome sequencing (WES), and karyotyping. It is speculated that partial trisomy of 16q may be associated with continuous gene duplication. However, functional studies are necessary to identify the causative gene or critical region linked to duplication syndrome of chromosome 16q.
Authors
- Jun Hui Fan
- Fu Xiong
- Lan Zeng (ORCID: https://orcid.org/0000-0001-9030-3678)
- Yu Huang (ORCID: https://orcid.org/0000-0001-6452-7109)
- Shuyao Zhu (ORCID: https://orcid.org/0000-0003-2169-8340)
- Dan Tang
- Jing Xu (ORCID: https://orcid.org/0000-0002-6546-7731)
- Jin Wang (ORCID: https://orcid.org/0000-0003-4961-6618)
- Gen Li (ORCID: https://orcid.org/0000-0002-0733-2695)
- Yang Li (ORCID: https://orcid.org/0000-0001-7441-7712)
- Ai Chen (ORCID: https://orcid.org/0000-0002-5682-2148)
- Hui Zhu (ORCID: https://orcid.org/0009-0004-1409-4551)
- Zemin Luo
- Guanghuan Pi
Institutions
- Chengdu Medical College (CN)
- Chengdu Women's and Children's Central Hospital (CN)
- Chengdu Second People's Hospital (CN)
Publication Details
- Journal
- BMC Medical Genomics
- Published
- 2024-12-23
- DOI
- https://doi.org/10.1186/s12920-024-02059-3
- Primary Topic
- Genomic variations and chromosomal abnormalities
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Chengdu Science and Technology Bureau
- Natural Science Foundation of Sichuan Province