Activities in Basic Training
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General
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General Paediatrics
Genetics
Knowledge
- classical (Mendelian) and population genetics
- understanding of non-Mendelian inheritance patterns: mitochondrial, parental disomy, repeating triplet sequences, polygenic inheritance'
- dysmorphology principles
- newborn screening
- understanding of
genetic techniques: PCR, FISH.
Skills
- construction and interpretation of a family pedigree
- genetic counselling
- recognition of common dysmorphic syndromes
- ability to research genetic databases eg. Oxford neurogenetics, online Mendelian Inheritance in Man (OMIM).
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Physicians
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Revised February 2001.