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Congenital disorders
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Revision as of 04:47, 22 July 2021
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04:47, 22 July 2021
→Classification of congenital disorders:
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• An affected person can inherit the condition from an affected parent.
• An affected person can inherit the condition from an affected parent.
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• the condition may result from a new mutation in the gene (e, without any family history) || Huntington disease, Marfan syndrome
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• the condition may result from a new mutation in the gene (e, without any family history)
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|| Huntington disease, Marfan syndrome
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|Autosomal recessive || • Both copies of the gene in each cell should have mutations.
|Autosomal recessive || • Both copies of the gene in each cell should have mutations.
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• Typically not seen in every generation of an affected family. || cystic fibrosis, sickle cell disease
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• Typically not seen in every generation of an affected family.
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|| cystic fibrosis, sickle cell disease
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|Codominant || • Two different versions (alleles) of a gene are expressed.
|Codominant || • Two different versions (alleles) of a gene are expressed.
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