Rare syndromes: a clinical case of «cat's cry» syndrome

In the article was presented the clinical case of «cat's cry» syndrome as one of the rare and the most severe genetic disease that requires genetic testing at the stage of planning of pregnancy. In case of suspicion of any deviations during the ultrasound in the first trimester of pregnancy it is necessary to carry out invasive prenatal diagnosis (chorionic villus sampling, amniocentesis and cordocentesis). One of the modern and accurate methods of cytogenetic research is currently FISH-method (fluorescent in situ hybridization). The advantage of this method is the ability to investigate not only metaphase chromosomes but also interphase nuclei