This site is intended for healthcare professionals

Go to /sign-in page

You can view 5 more pages without signing in

Autosomal disorders

Authoring team

There are 44 autosomes in Man comprising 22 homologous pairs of chromosomes. Upon each chromosome, the genes have a strict order, each gene occupying a distinct locus in unison with its counterpart of maternal or paternal origin.

Alleles are alternative forms of genes which arise by mutation, normal types being referred to as 'wild'. If both members of a gene pair are identical then the individual is described as being homozygous, whereas if they are different, they are said to be heterozygous.

Gene-specified characteristics are termed traits. There are three types of disorder depending on the expression of traits:

  • autosomal dominant: trait is seen in the heterozygote
  • autosomal recessive: trait is seen only in homozygote
  • autosomal codominant: effect of both alleles seen in heterozygote

Create an account to add page annotations

Annotations allow you to add information to this page that would be handy to have on hand during a consultation. E.g. a website or number. This information will always show when you visit this page.

The content herein is provided for informational purposes and does not replace the need to apply professional clinical judgement when diagnosing or treating any medical condition. A licensed medical practitioner should be consulted for diagnosis and treatment of any and all medical conditions.

Connect

Copyright 2024 Oxbridge Solutions Limited, a subsidiary of OmniaMed Communications Limited. All rights reserved. Any distribution or duplication of the information contained herein is strictly prohibited. Oxbridge Solutions receives funding from advertising but maintains editorial independence.