Abstract:

Purpose: In this study, a second method of genomic imbalances identified in the study of comparative genomic hybridization (a-CGH) based on microdis, such as fluorescent in situ hybridization (FISH), real-time quantitative polymerase chain reaction (Real-Time qPCR) or other array platform, was aimed at verifying by study, clinical understanding of meaning and giving families original genetic advice by establishing the genotype-fenotype relationship. Method and method: Multiple congenital anomaly/mental retardation (MKA/MR) in the postnatal period and multiple pathological findings in the fetal ultrasound in the prenatal period, Chromosome analysis in the Istanbul University, Istanbul Medical Faculty, Medical Genetic Anabolism Department has been completed, normal caryotype but the change in the a-CGH examination has been detected, parental studies have also been detected in the new 10 cases of changes in the a-CGH study, the use of appropriate techniques according to the type of change has been verified. Results: In the study, 8 phenotypes were linked to phenotypes by confirming the change, and 2 phenotypes found that the change was caused by technical hibridization errors. The findings we have obtained have shown that the changes detected by a-CGH technology are not before the verification work is completed and that each change should be verified by the most appropriate, fast and cost-efficient technique, assessed individually.