DOI: https://doi.org/10.22141/2224-0551.6.66.2015.75029

Angelman Syndrome. Part 2 (Clinical Picture and Diagnosis)

O.Ye. Abaturov, L.L. Petrenko, O.L. Krivusha

Abstract


The article presents the main clinical manifestations of Angelman syndrome. The article contains current data about the features of the physical, intellectual, verbal and sexual development of patients with Angelman syndrome. There are shown the data of the relationship of clinical features of Angelman syndrome with the nature of genetic disorders. The article presents the clinical criteria for diagnosis of Angelman syndrome in view of the incidence of key clinical signs. The authors reviewed the intended use of the molecular genetic analysis to verify the diagnosis and determine the genetic mechanism of Angelman syndrome. This article contains the algorithm of laboratory and diagnostic methods for molecular genetic exa-mination of patients with Angelman syndrome.


Keywords


Angelman syndrome

References


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