CMA and karyotyping: advantages of an integrated approach and discordant results (clinical cases)

Abstract

The low availability of some types of molecular genetic diagnostics often forces doctors and patients to make a difficult choice between different research methods, but in some cases only the combined use of molecular and classical cytogenetics methods or different types of molecular methods can provide complete information about the cause of genetic pathology and further risks in a particular family. The article provides several examples of how the integrated use of different cytogenetic diagnostic methods allows for a correct diagnosis, a prognosis for the patient, and reproductive tactics for the family.