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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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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This informative content covers the causes and features of cyanotic congenital heart disease, including central cyanosis due to congenital heart diseases like Tetralogy of Fallot, pulmonary atresia, Ebstein anomaly, and more. It also discusses non-cardiac causes of cyanosis related to lung diseases,

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Congenital heart diseases are abnormalities in the heart's structure present at birth. Factors like viral infections, genetic conditions, and maternal health contribute to these conditions. There are non-cyanotic and cyanotic classifications based on shunting patterns. Examples include atrial septal

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