New insights on partial trisomy 3q syndrome: de novo 3q27.1-q29 duplication in a newborn with pre and postnatal overgrowth and assisted reproductive conception

• Main Authors: Gregorio Serra (Author), Vincenzo Antona (Author), Marcello Cimador (Author), Giorgia Collodoro (Author), Marco Guida (Author), Ettore Piro (Author), Ingrid Anne Mandy Schierz (Author), Vincenzo Verde (Author), Mario Giuffrè (Author), Giovanni Corsello (Author)
• Format: Book
• Published: BMC, 2023-02-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Duplications of the long arm of chromosome 3 are rare, and associated to a well-defined contiguous gene syndrome known as partial trisomy 3q syndrome. It has been first described in 1966 by Falek et al., and since then around 100 patients have been reported. Clinical manifestatio...