Movement disorders associated with chromosomal aberrations diagnosed in adult patients

Introduction. Chromosomal aberrations are rare but important causes of various movement disorders. In cases disorders associated with dysmorphic features, multiorgan involvement and/or intellectual disability, the identification causative chromosomal should be considered. Aim study. The purpose this article was to summarise clinical findings in six patients dystonia and two parkinsonism identified a single-centre prospective Materials methods. 15 adult or were referred array comparative genomic hybridisation (aCGH) testing from our Department Neurology between 2014 2019. Additionally, one patient had karyotype examination. Detailed clinical, psychological radiological diagnostics performed each case. Results. parkinsonism. Two de Grouchy syndrome. We also reported generalised deletion 3q26.31 duplication 3p26.3, as well hypoacusis Xq26.3. One diagnosed 21q21.1. Early-onset manifestation 2q24.1 region. Late onset present most severe (duplication 1q21.1q44; 10p15.3p15.1; 10q11.21). Conclusions. Dystonia possible manifestations aberrations. excluded early-onset concomitant features disability. It is include cause future classifications. aCGH can valuable diagnostic tool evaluation disorder aetiology.