Open AccessEndocrinological Abnormalities Are a Main Feature of 17p13.1 Microduplication Syndrome: A New Case and Literature Review
Author(s) -
Ilenia Maini,
Ivan Ivanovski,
Alessandro Iodice,
Simonetta Rosato,
Marzia Pollazzon,
Manuela Mussini,
Elga Fabia Belligni,
Charles Coutton,
Maria Marinelli,
Veronica Barbieri,
Manuela Napoli,
Rosario Pascarella,
Chiara Sartori,
Francesca Madia,
Carlo Fusco,
F Franchi,
Maria Elisabeth Street,
Livia Garavelli
Publication year - 2016
Publication title -
molecular syndromology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.609
H-Index - 36
eISSN - 1661-8777
pISSN - 1661-8769
DOI - 10.1159/000450718
Subject(s) - intellectual disability , medicine , feature (linguistics) , gene duplication , pediatrics , genetics , biology , psychiatry , gene , linguistics , philosophy
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 described cases, we delineated the main clinical features of 17p13.1 microduplication syndrome. All patients described to date had variable facial dysmorphisms; therefore, it was difficult to define a common facial gestalt. Furthermore, we stress endocrinological abnormalities as important features and the need to monitor these over time.