Autosomal chromosome

Last updated on: 27.06.2024

Dieser Artikel auf Deutsch

Requires free registration (medical professionals only)

Please login to access all articles, images, and functions.

Our content is available exclusively to medical professionals. If you have already registered, please login. If you haven't, you can register for free (medical professionals only).


Requires free registration (medical professionals only)

Please complete your registration to access all articles and images.

To gain access, you must complete your registration. You either haven't confirmed your e-mail address or we still need proof that you are a member of the medical profession.

Finish your registration now

DefinitionThis section has been translated automatically.

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