Aarskog syndrome

Diagnosis and Testing

Who else in my family should I test for Aarskog syndrome?

Genetic testing can be offered for other family members if a FGD1 gene change is identified in an affected person. Testing can be offered to other people depending on who is diagnosed first. A few examples are the following:

  1. If a male child is found to have FGD1 gene mutation on the X-chromosome, carrier testing can be offered to the mother. The child's father would not be offered testing because father does not pass on his X chromosome to his male children (Aarskog syndrome is most frequently an X-linked condition). If mother is found to be a carrier, her siblings can be offered testing.
  2. If female child is found to have a FGD1 gene mutation, carrier testing can be offered to both her mother and father. If either mother or father are affected, their siblings can be offered testing.

Each family's situation is different, and it is beneficial to meet with a geneticist and genetic counselor to discuss risks to other family members and who testing is appropriate for. A medical geneticists can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website. Genetic counselors can be found on the National Society of Genetic Counselors website.

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