Ontology highlight
ABSTRACT:
SUBMITTER: Leka-Emiri S
PROVIDER: S-EPMC6381889 | biostudies-literature | 2019 Jan
REPOSITORIES: biostudies-literature
Leka-Emiri Sofia S Petrou Vassilios V Manolakos Emmanouil E Thomaidis Loretta L Fotinou Aspasia A Vlachopapadopoulou Elpis E Michalacos Stefanos S
Molecular syndromology 20181116 6
To date, 6 cases of 17p13.1 microduplications have been described in the literature. Intellectual disability is the core feature, together with minor facial dysmorphisms and obesity. We describe the first case of a young patient with a maternally inherited microduplication in 17p13.1 presenting with growth hormone deficiency. The boy was addressed to the endocrine division for growth retardation (weight and height <3rd percentile). Besides minor facial dysmorphisms, physical and neurological exa ...[more]