Аннотация
The article describes the first clinical case of X tetrasomy in Georgia. Delays in hypotrophy during pregnancy and subsequent psychomotor development, as well as the presence of dysembryogenetic stigmas, raised suspicion of a possible genetic pathology - Wolf-Hirschhorn Disease. Patient has undergone genetic investigation that ruled out Wolf-Hirschhorn Wolf-Hirschhorn Disease, but the analysis of the entire genome detected an increase in the number of pathogenic de novo 2 copies containing a complete X chromosome. This was confirmed by chromosomal microarray. Obtained results are compatible with the genetic diagnosis of X tetrasomy. Based on the analysis of presented case, the authors conclude that in case of any degree of psycho-motor, mental and speech development delay, accompanied by facial dysmorphism, joint hypermobility or contractures and heart defects - pediatricians, neurologists and rehabilitation physicians need to consider the possibility of X tetrasomy and should recommend conduction of the chromosomal study.