Cytogentics Assignment | Homework For You
Cytogentics WRITTEN ASSESSMENT: 2,000-2,500 words Due: Mark: 15% A5 year old male infant presents for cytogenetic investigation with the clinical indication of lower limb muscle weakness and developmental delay. Molecular karyotyping revealed a 92 kb deletion at Xp2.1(32,699,367-32,791,566) involving OMIM disease related genes.
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Investigate the clinical condition, the differential diagnosis, the gene involved and the molecular mechanisms that lead to each of the genetic diseases. In your answer, describe the change at the DNA level and how this has altered gene function leading to the disease states. The report may be submitted online at Marking will be based on a) Accuracy of the information provided b) Significance and relevance of information provided c) Appropriate use of resources e.g. databases, gene browsers d) Relevant use of current literature e) Correct use of referencing. Get Biology homework help today
