Eglė Preikšaitienė, Algirdas Utkus, Živilė Čiuladaitė, Jūratė Kasnauskienė, Vaidutis Kučinskas


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 more than 15% of patients with intellectual disability with normal results from prior conventional cytogenetic testing and number of intellectual disability cases considered as idiopatic forms are now classified as syndromic conditions with clinical recognizable phenotypes. In this article we present the clinical case of Phelan-McDermid syndrome and it‘s early diagnostics by array comparative genome hybridization technique. We discuss the importance of knowing the genetic diagnosis to patient‘s management, treatment and reproductive counselling of the family and prenatal diagnosis.

Article in Lithuanian


Keyword(s): helan-McDermid syndrome; intellectual disability; array comparative genomic hybridization
DOI: 10.5200/252
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