An intergenerational contraction of a fully penetrant Huntington disease allele to a reduced penetrance allele: interpretation of results and significance for risk assessment and genetic counseling.

Abstract excerpt

We report on a healthy 50-year-old woman who sought predictive testing due to a family history of Huntington disease (HD). Her 73-year-old mother had recently been confirmed to carry an HD allele of 42 CAG repeats, and started to show symptoms of HD at age 68. Clinically diagnosed HD is present in the maternal grandfather, maternal uncle, and three maternal cousins. Molecular analysis of the HD CAG repeat region...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Age of Onset
• Share to Anticipation, Genetic