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Learning Activity - Copy of Copy of 07 Cytogenetic Tests
TypeLecture
ModuleLINMED - Copy of Lincoln Medicine 1 (Copy of Copy of 07 Genes and Early Embryology)
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Recognise a normal male and female karyotype, both written and visually.

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Give one common variation seen in a normal karyotype.

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Outline methods of cytogenetic analysis used in a service laboratory.

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Be aware of the different levels of resolution obtained on analysis of blood, amniocentesis and bone marrow.

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Outline the technique of Fluorescent In Situ Hybridisation and discuss common applications.

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Explain the importance of nondisjunction in abnormalities of chromosome number.

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List four common abnormalites of chromosome number and for each give brief clinical details of a clinical example.

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Describe common chromosome anomalies including translocations, duplications, deletions, marker chromosomes and be able to outline their possible implications for a patient.

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List three common clinical situations in which cytogenetic analysis might be helpful.

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Interpret a simple cytogenetic result and make basic interpretations using cytogenetic terminology (ISCN).

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