Genetic analysis of an asymptomatic female with a large Xp deletion revealed insights into the X chromosome inactivation pattern: a case report
Abstract Background X-linked disorders caused by skewed X chromosome inactivation (XCI) result in phenotypic heterogeneity, which is rarely reported. XCI testing is not widely used in clinical cases, making risk assessment for carriers of X-linked unbalanced structural abnormalities challenging. Cas...
Gespeichert in:
| Hauptverfasser: | , , , , |
|---|---|
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
BMC
2025-09-01
|
| Schriftenreihe: | Molecular Cytogenetics |
| Schlagworte: | |
| Online-Zugang: | https://doi.org/10.1186/s13039-025-00729-0 |
| Tags: |
Keine Tags, Fügen Sie das erste Tag hinzu!
|