Ontology highlight
ABSTRACT:
SUBMITTER: Maini I
PROVIDER: S-EPMC5131335 | biostudies-literature | 2016 Nov
REPOSITORIES: biostudies-literature
Maini Ilenia I Ivanovski Ivan I Iodice Alessandro A Rosato Simonetta S Pollazzon Marzia M Mussini Manuela M Belligni Elga F EF Coutton Charles C Marinelli Maria M Barbieri Veronica V Napoli Manuela M Pascarella Rosario R Sartori Chiara C Madia Francesca F Fusco Carlo C Franchi Fabrizia F Street Maria E ME Garavelli Livia L
Molecular syndromology 20161014 6
To date, 5 cases of 17p13.1 microduplications have been described in the literature. Intellectual disability was reported as the core feature, together with minor facial dysmorphisms and obesity, but a characteristic phenotype for 17p13.1 microduplication has not been delineated. Here, we describe a patient with a 1.56-Mb de novo duplication in 17p13.1, affected by mild intellectual disability, facial dysmorphisms, obesity, and diabetes. By comparing the different phenotypes of currently describ ...[more]