Živilė Čiuladaitė, Eglė Preikšaitienė, Jūratė Kasnauskienė, Algirdas Utkus, Loreta Cimbalistienė, Aušra Matulevičienė, Agnė Pečiulytė, Laima Ambrozaitytė, Beata Aleksiūnienė, Vaidas Dirsė, Vaidutis Kučinskas
Molecular karyotyping is recently developed and rapidly progressing high technology of molecular cytogenetics, which erased the landmarks between cytogenetics and molecular genetics, enhances our understanding of the complexity of the human genome, is attempting to change the schemes of patient’s routine investigation and spreads in all areas of medicine. This new diagnostic technique was successfully applied to the diagnostic investigation of intellectual disability. Diagnostic yield of this analysis is over 15% in cases with ideopatic intellectual disability. In this article we present case reports representing diagnostic use of molecular karyotyping – early diagnosis of known microdeletion/microduplication syndromes, narrowing critical regions of known syndromes, revealing the molecular mechanisms of some chromosomal aberrations, identification of genes which expression pattern may be critical for pathogenicity of intellectual disability and identification of complex cryptic chromosomal rearrangements.
Article in Lithuanian
Keyword(s): intellectual disability; molecular karyotyping
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