hrp0097p2-10 | Growth and Syndromes | ESPE2023

Overgrowth in a 12-years-old boy with distal chromosome 16 duplication syndrome

Abbate Tiziana , Aversa Tommaso , Briuglia Silvana , Pepe Giorgia , Li Pomi Alessandra , Moschella Antonino , Paola Capra Anna , Wasniewska Malgorzata , Corica Domenico

Background: Distal chromosome 16 duplication syndrome, also known as 16q partial trisomy, is a very rare genetic disorder. Smaller chromosomal copy number variants (CNVs) within the 16q region create partial trisomies, which occur less frequently than full trisomy 16q. Trisomy 16q is generally associated with a multisystemic phenotype including intrauterine growth restriction (IUGR), brain and cardiac defects, intellectual disability and an increased risk of b...