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1.Which genetic test would you use to determine if a patient has Crie du chat syndrome?
2.There is a specific mutation in the FGFR3 gene in Achondroplasia. What is the effect of the mutation at the cellular level?
3.What are three phenotypic manifestations of Trisomy 21?
4.If a patient had DeGeorge Syndrome, what is the phenotype?
5.What is a Robertsonian Translocation?
6.At the cellular level, what happens in Robert Syndrome and why (what gene/protein is affected)?
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