Autosomal chromosome

Last updated on: 27.06.2024

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An autosomal chromosome is a normal chromosome that is not a sex chromosome. In the case of autosomal dominant inheritance, the gene in question is located on an autosome and behaves dominantly. It is sufficient (dominant) to cause the disease. A typical example of autosomal dominant inheritance is neurofibromatosis generalisata type I (v. Recklinghausen). If both parents have the mutation, the inheritance is homozygous autosomal dominant. Normally, autosomal dominant inherited diseases affect structural proteins. If > 50% of a structural protein has an abnormal composition, its function is impaired. The clinical picture becomes clinically manifest.

Last updated on: 27.06.2024