Monday, 28 August 2017

KARYOTYPING

KARYOTYPING
This assessment is designed as an introduction to medical genetic techniques. Karyotyping is one of many techniques that allow us to look for the genetic aetiology of several thousand possible genetic diseases in humans. You will evaluate three patients' case histories, complete their karyotypes and diagnose any missing or extra chromosomes. Then you will conduct research on the internet using OMIM, MALAcards or MEDLINEplus. You should scan or photograph your created karyotype for each patient, and incorporate it into one document which includes the correct notation for the karyotype and the answers to the questions. Your karyotype must be initialled and signed by a demonstrator, in class. This must be visible in the picture and must match your register of attendance to satisfy the attendance component 004. All you need to do is to do the karyotype and answer the questions below. Look at the marks allocated to understand how much to write. You can use the website to help you.
http://www.liv.ac.uk/~agmclen/Medpracs/karyotyping/patient_c/12-xx.html And for your research: http://www.ncbi.nlm.nih.gov/omim,
http://www.malacards.org/ or http://www.nlm.nih.gov/medlineplus/
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