Clinical utility of of molecular karyotyping

Purpose: The aim of this study was to investigate molecular karyotyping of epilepsy and intellectual disabilites and to reveal its relationship with these diseases. Materials and Methods: A total of 580 patients with a wide range of clinical problems underwent molecular karyotyping by Affymetrix CytoScan platform included in the study that were presented to Medical Genetics Policlinics of Balcali Hospital and Clinics, Cukurova University Faculty of Medicine. Results: Molecular karyotyping identified 41% microdeletions, 32% duplications and 50% both deletions and duplications in mental retardation patients; 16% microdeletion, 34% duplications and 50% both deletions and duplications in epilepsy patients; and 33.3% microdeletions, 44.4% duplications and 22.2% both deletions and duplications in mental retardation with epilepsy group. In addition, one of epilepsy group with uniparental disomy and 2 marker chromosomes were detected in this study. Conclusion: Our results demonstrate that molecular karyotyping and clinical interpretation by a medical geneticist is efficient in diagnosing chromosomal diseases. Moreover, molecular karyotyping might be more effective as a first tier testing in epilepsy and psychomotor retardation patients.