Clinical features and genetic analysis of a family with t(5;9) (p15;p24) balanced translocation leading to Cri-du-chat syndrome in offspring
This study reports a rare familial balanced translocation pedigree, particularly noting that the offspring can suffer from Cri-du-chat syndrome, which suggests a potential new genetic model for this syndrome. It provides novel insights for genetic counseling and prenatal diagnosis in patients with adverse pregnancy outcomes before attempting another pregnancy.
Authors
- Ping Chen (ORCID: https://orcid.org/0000-0001-7815-7532)
- Shurong Li (ORCID: https://orcid.org/0000-0002-5183-748X)
- Yan Li (ORCID: https://orcid.org/0000-0002-9742-0081)
- Weiyi Zhang
- Fengyu Wang
- Jing Zhao (ORCID: https://orcid.org/0000-0001-5576-644X)
- Yijia Ren (ORCID: https://orcid.org/0009-0001-6775-4160)
Institutions
- Zhengzhou University (CN)
- Henan Energy & Chemical Industry Group (China) (CN)
- Kingmed Diagnostics (CN)
- Henan Provincial People's Hospital (CN)
- First Affiliated Hospital of Henan University (CN)
Publication Details
- Journal
- Frontiers in Genetics
- Published
- 2025-05-08
- DOI
- https://doi.org/10.3389/fgene.2025.1550937
- Citations
- 1
- Primary Topic
- Genomic variations and chromosomal abnormalities
- Type
- article
- Field-Weighted Citation Impact
- 1.82