Genomic Evaluation of a 2-Month-Old Female with Tetralogy of Fallot
This case involves a 2-month-old female with Tetralogy of Fallot, carrying a genetic variation in the 19p13.11 region. The evaluation process includes assessing genes, known dosage sensitivity, gene count, and detailed analysis of the duplication found in the DGV Gold Standard Dataset. The frequency
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Genetic Evaluation of 6-Month-Old Male with Tetralogy of Fallot
A 6-month-old male with Tetralogy of Fallot was assessed for a paternally inherited CNV at 15q13.2. The evaluation involved analyzing genes, overlap with established regions, haploinsufficiency predictors, gene number, and disease associations. The CNV contained 2 protein-coding genes without known
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