Karyoarray 3

The classical cytogenetics G-banding technique was performed after the patient had given birth to do a blood karyotype analysis. The karyotype analysis was performed on cells in metaphase using a microscope and the CytoVision (Leica) karyotype software system. After extracting DNA from the patient’s peripheral blood cells, 1 μg was used for array comparative genomic hybridization (a-CGH) utilizing KaryoArray 3.0 (8 × 60K; Agilent Technologies, Santa Clara, CA, United States) and was marked by fluorescence to compare the patient’s DNA with the control sample. DNA hybridization was done with a human genomic microarray of 860 K oligonucleotides using commercially available Agilent-based arrays, which were analyzed using an Agilent scanner with Feature Extraction 9.1 software. The aberration detection method 2 algorithm was used to determine any statistically significant aberrations. This was defined as the minimum number of oligonucleotides to consider an alteration. Subsequently, the medium resolution of the array was one oligonucleotide per 9 Kb in the regions of maximum interest, such as microdeletions and microduplications, centromeres, and telomeres. The algorithm in CGH Analytics version 3.5 software (Agilent Technologies) was used (Blanco-Kelly et al., 2017 (link)), as is described previously in the literature (Candelo et al., 2019 (link)).