Establishing the Genetic Diagnosis in Patients with Intellectual Disability: a Case Report of Phelan-Mcdermid Syndrome
Eglė Preikšaitienė, Algirdas Utkus, Živilė Čiuladaitė, Jūratė Kasnauskienė, Vaidutis Kučinskas Abstract In two thirds of patients the cause of intellectual disability is genetical. Introduction of new molecular cytogenetic methods into the diagnostics of intellectual disability demonstrated that the main cause of unknown etiology intellectual disability is chromosomal abnormalities. Array-Comparative Genomic Hybridization reveals submicroscopic aberrations in…