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Autosomal recessive inheritance

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Autosomal recessive inheritance is another of the ways a genetic condition passes from parents to children. Here one altered copy of the gene is not enough. Both are needed, the one that came from the father and the one that came from the mother.

That explains something families often find puzzling. The parents of someone with an autosomal recessive condition each carry one altered copy, and yet they are almost always healthy and free of symptoms: the good copy each of them still has is enough for the body to work. The condition shows up in the child who received the altered copy from both of them.

Autosomal again points to where the gene sits: on one of the twenty-two pairs of chromosomes, the packages of DNA that look the same in males and in females.

In brief

In autosomal recessive inheritance one altered copy is not enough: the condition appears when variants occur in both copies of the gene in each cell.

The parents of a person with an autosomal recessive condition each carry one copy of the altered gene, but they typically show no signs or symptoms.

Autosomal indicates that the gene sits on one of the twenty-two pairs of chromosomes that look the same in males and females.

Sources (2)
  1. MedlinePlus GeneticsWhat are the different ways a genetic condition can be inherited?
  2. MedlinePlus GeneticsHow many chromosomes do people have?

This page explains the topic in general terms; it does not tell anyone what treatment to follow.

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