The diagnosis of Beckwith Wiedemann syndrome is not fully defined and agreed upon. The first approach would be clinical examination to evaluate the clinical manifestations of the infant.
Next, a karyotype could be performed to try to find alterations in the chromosomes. Similarly, molecular tests can be used to identify the particular gene affected, thus obtaining all the information about the disease.
Read the full article on: Beckwith Wiedemann syndrome: causes, diagnosis and treatment ( 66).
By Katharina Spies M.D. (gynaecologist) and Marta Barranquero Gómez B.Sc., M.Sc. (embryologist).
Last Update: 02/27/2024
