Rubinstein-Taybi Syndrome – from Genetic Basis of Mental Retardation Till Clinical Genetic Evaluation: a Case Report

Birutė Burnytė, Algirdas Utkus, Vaidas Dirsė, Vaidutis Kučinskas Abstract Rubinstein–Taybi syndrome is detected in patients who have such clinical features as mental retardation, growth retardation, broad thumbs and toes, retarded osseous maturation, microcephaly, typical craniofacial abnormalities. Rubinstein–Taybi syndrome is related to two groups of genetic causes. In more than half of all cases, mutations (point…

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…

Molecular Karyotyping and Genetic Etiology of Intellectual Disability: Case Reports

Živilė Čiuladaitė, Eglė Preikšaitienė, Jūratė Kasnauskienė, Algirdas Utkus, Loreta Cimbalistienė, Aušra Matulevičienė, Agnė Pečiulytė, Laima Ambrozaitytė, Beata Aleksiūnienė, Vaidas Dirsė, Vaidutis Kučinskas Abstract 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,…