Proximal 4p Deletion Syndrome in an Infant With Multiple Systemic Anomalies
We identified a patient with proximal 4p deletion syndrome by karyotype and WES analysis, which might explain some of his phenotypes. Our research enhances clinicians' knowledge of this rare condition, and offers valuable genetic counseling to the affected family. Further research is necessary to identify the causative gene or critical region associated with proximal 4p deletion syndrome.
Authors
- Liang Hua (ORCID: https://orcid.org/0000-0002-6670-4188)
- Lihui Shan
- Lan Zeng (ORCID: https://orcid.org/0000-0001-9030-3678)
- Shuyao Zhu (ORCID: https://orcid.org/0000-0003-2169-8340)
- Ying Pang (ORCID: https://orcid.org/0000-0001-6195-2150)
- Yang Li (ORCID: https://orcid.org/0000-0003-2845-5739)
- Ai Chen (ORCID: https://orcid.org/0000-0002-5682-2148)
- Fu Xiong (ORCID: https://orcid.org/0000-0001-7538-7113)
- Chunlan Cheng (ORCID: https://orcid.org/0000-0001-9586-5610)
- Nanjing Jiang
- Guanghuan Pi
- Jin Wang (ORCID: https://orcid.org/0009-0002-4560-8231)
Institutions
- Maternal and Child Health Hospital of Sichuan Province (CN)
Publication Details
- Journal
- Molecular Genetics & Genomic Medicine
- Published
- 2024-09-01
- DOI
- https://doi.org/10.1002/mgg3.70005
- Citations
- 2
- Primary Topic
- Genomic variations and chromosomal abnormalities
- Type
- article
- Field-Weighted Citation Impact
- 1.10
Funders
- Chengdu Science and Technology Bureau