Alstrom syndrome primary prevention: Difference between revisions
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==Primary Prevention== | ==Primary Prevention== | ||
===Genetic Counselling=== | ===Genetic Counselling=== | ||
Alström syndrome is [[inherited]] in an [[autosomal recessive]] manner. At conception, each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. Carrier testing for at-risk relatives and prenatal testing for pregnancies at increased risk are possible if the disease-causing mutations have been identified in an affected family member. | |||
* Parents of a [[proband]]: The parents of an affected individual are obligate [[heterozygote]]s and therefore carry one mutant allele. Heterozygotes ([[carrier]]s) are asymptomatic. | |||
* Sibs of a proband: At conception, each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. Once an at-risk sib is known to be unaffected, the chance of his/her being a carrier is 2/3. | |||
* Offspring of a proband: No individuals with molecularly confirmed Alström syndrome are known to be fertile. | |||
* Other family members of a proband: Each sib of the proband's parents is at a 50% risk of being a carrier. | |||
==References== | ==References== | ||
{{Reflist|2}} | {{Reflist|2}} | ||
{{WikiDoc Help Menu}} | |||
{{WikiDoc Sources}} | |||
[[CME Category::Cardiology]] | |||
[[Category:Genetic Disease]] | [[Category:Genetic Disease]] | ||
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[[Category:Cardiology]] | [[Category:Cardiology]] | ||
[[Category:Disease]] | [[Category:Disease]] | ||
[[Category:Needs overview]] | |||
Latest revision as of 20:06, 14 March 2016
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1], Associate Editor(s)-in-Chief: Aarti Narayan, M.B.B.S [2]; Raviteja Guddeti, M.B.B.S. [3]
Primary Prevention
Genetic Counselling
Alström syndrome is inherited in an autosomal recessive manner. At conception, each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. Carrier testing for at-risk relatives and prenatal testing for pregnancies at increased risk are possible if the disease-causing mutations have been identified in an affected family member.
- Parents of a proband: The parents of an affected individual are obligate heterozygotes and therefore carry one mutant allele. Heterozygotes (carriers) are asymptomatic.
- Sibs of a proband: At conception, each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. Once an at-risk sib is known to be unaffected, the chance of his/her being a carrier is 2/3.
- Offspring of a proband: No individuals with molecularly confirmed Alström syndrome are known to be fertile.
- Other family members of a proband: Each sib of the proband's parents is at a 50% risk of being a carrier.