Genetic Assessment of CNV.J on Chromosome 3q28 - Case Study J
This case study evaluates a copy number variant (CNV) on chromosome 3q28 (190380498_191783134) associated with a loss of genetic material. The assessment includes genomic content analysis, gene involvement categorization, evaluation of established/predicted genes, and detailed scrutiny of the CCDC50
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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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Genetic Findings in a Female Patient with Developmental Disorders
A 3-year-old female patient (Case V) with postnatal growth deficiency, VSD, scoliosis, hand anomalies, hearing loss, and craniofacial dysmorphism was referred for genomic microarray testing. Maternal inheritance of a CNV was identified. Research on PTCHD1 disruptions in males and carrier females hig
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Comprehensive Assessment of a Pathogenic CNV in a 2-Year-Old Male with Developmental Delay and Seizures
In this case study, a 2-year-old male presenting with developmental delay and seizures was evaluated for a CNV at the 12p13.1p12.3 region. The CNV was found to overlap with the GRIN2B gene, a known haploinsufficient gene associated with developmental disorders. Despite potential additional scoring c
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