Proposal for Practical Approach in Prenatal Diagnosis of Beckwith–Wiedemann Syndrome and Review of the Literature

Abstract excerpt

BACKGROUND: Beckwith-Wiedemann syndrome (BWS) is a phenotypically and genetically heterogeneous disorder associated with epigenetic/genetic aberrations on chromosome 11p15.4p15.5. There is no consensus criterion for prenatal diagnosis of BWS. METHODS: Three BWS patients with their clinical histories, prenatal ultrasonographic features, and results of molecular diagnosis were presented. Likewise, by incorporating...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Assisted Reproductive Technology and Twin Pregnancy
• Share to Connective tissue disorders research
• Share to Genetic Syndromes and Imprinting