Clinical Genetic Approach to De Novo Changes Identified in Array-CGH Analysis

Abstract

Objective: In this study, it is planned to work with fluorescent in situ hybridization (FISH), quantitative polymerase chain reaction (Real-Time qPCR) or with another a-CGH platform to verify genomic imbalances detected in a-CGH examination. It is aimed to determine whether the change is clinically relevant, so that genotype-phenotype relationship can be established and contribute effective genetic counseling.