: Accurately diagnosing Beckwith-Wiedemann syndrome (BWS) in twins with discordant phenotypes is essential for personalized oncological monitoring and management. It is advisable to test both twins, even without phenotypic expression, and incorporate prenatal factors like assisted reproduction technologies and twin pregnancies into the diagnostic BWS scoring system.
Challenges and Pitfalls in Diagnosing Twins With Discordant BWS Phenotype
Trevisan, Valentina;Mussa, Alessandro;Genuardi, Maurizio;Leoni, Chiara
2025-01-01
Abstract
: Accurately diagnosing Beckwith-Wiedemann syndrome (BWS) in twins with discordant phenotypes is essential for personalized oncological monitoring and management. It is advisable to test both twins, even without phenotypic expression, and incorporate prenatal factors like assisted reproduction technologies and twin pregnancies into the diagnostic BWS scoring system.
File in questo prodotto:
| File | Dimensione | Formato | |
|---|---|---|---|
|
Clinical Genetics - 2025 - Bellani - Challenges and Pitfalls in Diagnosing Twins With Discordant BWS Phenotype.pdf
Accesso aperto
Tipo di file:
PDF EDITORIALE
Dimensione
893.13 kB
Formato
Adobe PDF
|
893.13 kB | Adobe PDF | Visualizza/Apri |
I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
