Clinical and genetic characteristics of the X chromosome distal long arm microduplications encompassing the MECP2 gene

Abstract

Objective. Microduplications of the long arm of the X chromosome including the MECP2 gene are relatively common causes of neurodevelopmental disorders in males. Authors analyzed clinical presentations of this disease in children. Material and methods. Authors performed a clinical and genetic analysis of four cases using contemporary cytogenetic, molecular cytogenetic studies (FISH, array CGH) and X chromosome inactivation analysis. Results and conclusion. We described somatic, neurologic and mental symptoms of the patients. The genetic imbalance impact on the patients’ phenotype, necessity of comprehensive family studies for correct genetic diagnosis and effective genetic counseling in cases of microduplications of the long arm of the X chromosome including the MECP2 gene are discussed.