This exam is closed notes/closed book. A basic calculator i…
Questions
This exаm is clоsed nоtes/clоsed book. A bаsic cаlculator is allowed.
Questiоn 1 Shоrt Answered Questiоns - (20%) Below is аn imаge from G-bаnding analysis of a sample from a leukaemia patient. Abnormalities have been indicated by arrows. 1a) Using ISCN nomenclature, what is the karyotype of this individual? (2 marks) -- Below is an image generated by fluorescence in situ hybridisation (FISH) for Patient A, who is a newborn child displaying low birth weight, microcephaly, poor lung function, and a weak cry. The probes map to the q arm of chr12 (green) and the p arm of chr18 (red). 1b) What genetic abnormality is present in Patient A, and what diagnosis would be made? (2 marks) -- Below is an image generated by fluorescence in situ hybridisation (FISH). The probes map to 22q11.2 (red) and a control probe mapping to 22q13.3 (green). 1c) What genetic abnormality is present in the individual? (2 marks) 1d) The affected region is approximately 3 mb in size. Explain why FISH was used rather than G-banding for this patient. (4 marks) -- ESSAY QUESTION - (80%) Critically evaluate G-banding, fluorescence in situ hybridisation (FISH) and CGH arrays for the detection of cytogenetic abnormalities. For each technique, explain how specific disorders could be diagnosed.