hrp0089p3-p259 | Growth & Syndromes P3 | ESPE2018

17p13.1 Microduplication Syndrome in a Child with Familial Short Stature and GH Deficiency: A Short Case Report

Leka-Emiri Sofia , Petrou Vassilios , Manolakos Emmanouil , Fotinou Aspasia , Thomaidis Loretta , Vlachopapadopoulou Elpis , Michalacos Stefanos

Background: To date, six cases of 17p13.1 microduplications have been described in the literature. Intellectual disability is the core feature, together with minor facial dysmorphisms and obesity later in life, but a characteristic phenotype for 17p13.1 microduplication has not been delineated.Objective and hypothesis: We describe a young patient with a 422 Kb microduplication maternally inherited in 17p13.1, affected by mild intellectual disability and ...