Alstrom syndrome primary prevention

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.

Template:WikiDoc Sources CME Category::Cardiology