X-linked recessive inheritance with carrier mother
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Female carriers of an X-linked recessive disorder often have no symptoms, though some have mild symptoms of the disorder. This is because female carriers have one normal copy of the gene and one abnormal (mutated) copy. The normal copy typically can compensate for the abnormal copy.

Males have only one X chromosome and will usually be affected if there is an abnormal copy of a gene on the X-chromosome.

A woman who is a carrier of an X-linked recessive disorder has a 25% chance of each of the following results with each pregnancy:

  • Having an unaffected son
  • Having an unaffected daughter
  • Having an unaffected daughter who also is a carrier
  • Having an affected son

Genetic counseling

If you know — or suspect — that you or your partner has a family history of any genetic disorder, a genetics professional can help assess your genetic risk. Genetic counseling can also help you decide whether to have genetic testing and learn about treatments, preventive measures and reproductive options.

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See more Multimedia Feb. 15, 2020