Baby Girl Clinical Case Study Report Writing - Nursing Assignment Help

Assignment Task

Task

Bioinformatics coursework. 1000-word clinical case report based on solving and reporting a patient genetic diagnosis Addresses learning outcomes (1) Apply methods to identify of genetic mutations to synthesise genetic diagnoses & (2) Interpret mutations, predict genotype phenotype relationships and evaluate whether detected changes are pathogenic. In addition, you will be required to create your own patient case study. You will be required to use BLAST software to solve the patient case study. 
Use a suitable standard font Calibri, Times New Roman, Arial. Include in text citations a reference list in APA format. Include all gene and protein sequences that you refer to. Use official nomenclature when reporting mutations. 
Case study -A baby girl was born to a 27-year-old mother and 35-year-old father with a birth weight of 2450 g at 35 weeks gestation. Her antenatal ultrasound was normal. Parents are first cousins. At 35 h of age the baby girl was admitted to the neonatal intensive care unit due to cyanosis and complex congenital heart disease (CHD) was diagnosed. Karyotyping and microarray were both normal. At 6 days of age the baby developed severe oedema, and proteinuria >350 mg/dl and >3g/day, hypoalbuminemia at 11g/dl and protein/creatinine ratio was 11,876 mg/mmol. A genetic syndrome was suspected, so full gene sequencing of selected genes (including exon-intron boundaries) was carried out using Sanger sequencing. 
 

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