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Ear Abnormalities & Hearing Loss and Pendred syndrome
Last Updated: 2008-08-14
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Question |
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My partner has Pendred's syndrome. If we had children what is the chance of the child having the syndrome? Should I get tested for the defect gene? |
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Answer |
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Pendred syndrome is inherited. It is an autosomal recessive condition which means that two copies of a non-working gene, one inherited from each parent, is necessary to have the condition. Males and females are equally likely to be affected. Carrier parents have a 1 in 4 or 25% chance with each pregnancy, to have an affected child. Any children you have with your partner will be obligate carriers. The only way for your offspring to be at risk to have Pendred syndrome is if you are a carrier.
Carrier testing is available for Pendred syndrome. We recommend for you to have genetic counseling for more information and consideration of carrier testing.
There is a website that lists genetic clinics by geographic location: www.geneclinics.org; click on "clinic directory". Information about genetic counseling and how to find a genetic counselor in your area are available online from the National Society of Genetic Counselors at www.nsgc.org. Click on "consumer information" or "find a counselor". You can also search for genetic healthcare providers on the American College of Medical Genetics website at: www.acmg.net; click on ?find a geneticist? and then enter your geographic information.
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