Clinical and genetic analysis of a female child with duplications at 7p22.3p22.1 and Xp22.31p21.1: A case report
Our study underscores the importance of comprehensive clinical and genetic evaluation in individuals with duplication on the X chromosome and the terminal region of chromosome 7's short arm. We highlight the need for monitoring these patients for growth and sexual development issues. Our findings also suggest that chromosomal duplication can lead to severe clinical manifestations, emphasizing the critical role of genetic assessment in managing such cases.
Authors
- Congfan Bu (ORCID: https://orcid.org/0000-0002-6592-6977)
- Ying Deng (ORCID: https://orcid.org/0000-0002-5430-4152)
- Quansheng Xi
Institutions
- Sichuan University (CN)
- West China Second University Hospital of Sichuan University (CN)
- Tibet Autonomous Region People's Hospital (CN)
Publication Details
- Journal
- Medicine
- Published
- 2025-02-07
- DOI
- https://doi.org/10.1097/md.0000000000041452
- Primary Topic
- Genomic variations and chromosomal abnormalities
- Type
- article
- Field-Weighted Citation Impact
- 0.00