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Autosomal recessive inheritance

German: Autosomal-rezessiver Erbgang

In autosomal recessive inheritance, the allele of both homologous chromosomes must be defective for the disease and/or the characteristic trait to appear. Only the homozygote carriers of the affected allele are affected.

In most cases, both the parents are healthy and heterozygote, and pass on the diseased gene to the children. Contrary to the autosomal dominant inheritance, the child can only become affected if both parents are carriers (conductor) of the defective allele. Thus the disease can miss several generations, before it breaks out again. The probability for the offspring to be affected by the hereditary disease is 25 %.

If one parent is already affected, the probability for the progeny also to become ill rises to 50 %. If both parents are affected by a hereditary disease, all offspring will also suffer from the hereditary disease.

The genetic information lies on one of the 22 autosomes and is inherited independent of the gender.

Some autosomal recessively inherited diseases:

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