Genetic analysis of a female patient with X-linked lymphoproliferative disease type 2: a case report
Close attention should be paid to shifts in X-chromosome inactivation in female children. When a pathogenic gene variant is not detected in a mother with a normal phenotype, gonadal mosaicism cannot be ruled out, and prenatal genetic diagnosis should be performed in the next pregnancy.
Authors
- Yalin Sun
- Wen‐Hsiung Li (ORCID: https://orcid.org/0000-0003-1086-1456)
- Huaping Wang (ORCID: https://orcid.org/0000-0001-9193-9854)
- Shu Teng (ORCID: https://orcid.org/0009-0002-0488-8476)
- Zhenghong Qi
Institutions
- Hangzhou Children's Hospital (CN)
Publication Details
- Journal
- Journal of Medical Case Reports
- Published
- 2025-04-28
- DOI
- https://doi.org/10.1186/s13256-025-05237-8
- Primary Topic
- Immune Cell Function and Interaction
- Type
- article
- Field-Weighted Citation Impact
- 0.00