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Your QuestionI have two older brothers with Milroy disease. I do not exhibit any signs or symptoms of the condition. I am currently pregnant and was under the impression that since I do not show the signs of Milroy disease that my offspring would not be at risk for this disorder. Am I correct in my understanding that an autosomal dominant trait must be present in order to be passed on to offspring?
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Estimating the chance of developing or passing on a genetic disorder can be complex. Genetics professionals can help people understand these chances and help them make informed decisions about their health.
Most people with Milroy disease have an affected parent, but some cases are due to new mutations that occur for the first time in the affected person. About 10-15% of people with a mutation in the responsible gene do not develop features of the condition. This phenomenon is called reduced penetrance.
If a mutation in the responsible gene has been identified in a family, genetic testing for at-risk relatives may identify those who may benefit from treatment early in the disease course. Prenatal testing for pregnancies at increased risk may also be available.
Genetics clinics are a source of information for individuals and families regarding genetic conditions, treatment, inheritance, and genetic risks to other family members. More information about genetic consultations is available from Genetics Home Reference. To find a genetics clinic, we recommend that you contact your primary healthcare provider for a referral.
The following online resources can help you find a genetics professional in your community:
- The National Society for Genetic Counselors provides a searchable directory of US and international genetic counseling services.
- The American College of Medical Genetics has a searchable database of US genetics clinics.
- The University of Kansas Medical Center provides a list of US and international genetic centers, clinics, and departments.
- The American Society of Human Genetics maintains a database of its members, which includes individuals who live outside of the United States. Visit the link to obtain a list of the geneticists in your country, some of whom may be researchers that do not provide medical care.
- What are reduced penetrance and variable expressivity?. Genetics Home Reference. 2011; http://ghr.nlm.nih.gov/handbook/inheritance/penetranceexpressivity. Accessed 7/29/2011.
- Glen W Brice, Sahar Mansour, Pia Ostergaard, Fiona Connell, Steve Jeffery, and Peter Mortimer. Milroy Disease. GeneReviews. September 25, 2014; http://www.ncbi.nlm.nih.gov/books/NBK1239/.