A novel case of 16q22.3 duplication syndrome in a child with overgrowth: case report and literature review

• Main Authors: Antonino Moschella (Author), Anna Paola Capra (Author), Domenico Corica (Author), Giorgia Pepe (Author), Silvia Di Tommaso (Author), Ester Sallicandro (Author), Malgorzata G. Wasniewska (Author), Silvana Briuglia (Author), Tommaso Aversa (Author)
• Format: Book
• Published: BMC, 2023-12-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Distal chromosome 16 duplication syndrome (also known as 16q partial trisomy) is a very rare genetic disorder recently described in few clinical reports. 16q trisomy is generally associated with a multisystemic phenotype including intrauterine growth restriction (IUGR), brain and...