Prenatal identification of partial 3q duplication syndrome

• Hoofdauteurs: Magdalena Pasińska (Auteur), Rafał Adamczak (Auteur), Anna Repczyńska (Auteur), Ewelina Łazarczyk (Auteur), Barbara Iskra (Auteur), Agata Klaudia Runge (Auteur), Olga Haus (Auteur)
• Formaat: Boek
• Gepubliceerd in: BMC, 2019-06-01T00:00:00Z.
• Onderwerpen: article
• Online toegang: Connect to this object online.

Abstract Background The 3q duplication syndrome is a result of duplication of a large fragment of the long arm of chromosome 3, mainly 3q21-qter, and in most cases it is diagnosed only after birth. The phenotypic consequences resulting from genetic imbalance are an important source of information fo...