Endocrinological abnormalities are a main feature of 17p13.1 microduplication syndrome: A new case and literature review

Ilenia Maini, Ivan Ivanovski, Alessandro Iodice, Simonetta Rosato, Marzia Pollazzon, Manuela Mussini, Elga F. Belligni, Charles Coutton, Maria Marinelli, Veronica Barbieri, Manuela Napoli, Rosario Pascarella, Chiara Sartori, Francesca Madia, Carlo Fusco, Fabrizia Franchi, Maria E. Street, Livia Garavelli

Research output: Contribution to journalReview article

Abstract

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.

Original languageEnglish
Pages (from-to)337-343
Number of pages7
JournalMolecular Syndromology
Volume7
Issue number6
DOIs
Publication statusPublished - Nov 1 2016

Keywords

  • Diabetes
  • Endocrine disorders
  • Intellectual disability
  • Microduplication syndrome 17p13.1
  • Obesity

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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  • Cite this

    Maini, I., Ivanovski, I., Iodice, A., Rosato, S., Pollazzon, M., Mussini, M., Belligni, E. F., Coutton, C., Marinelli, M., Barbieri, V., Napoli, M., Pascarella, R., Sartori, C., Madia, F., Fusco, C., Franchi, F., Street, M. E., & Garavelli, L. (2016). Endocrinological abnormalities are a main feature of 17p13.1 microduplication syndrome: A new case and literature review. Molecular Syndromology, 7(6), 337-343. https://doi.org/10.1159/000450718