For example: Marfan, autosomal dominant, reduced penetrance was discovered only after testing.
Background: A daughter suddenly died. Nobody knew what caused it. After testing, the mom carried the gene but the mom did not manifest the disease. Low penetrance, variable expressivity.
I still review your path lectures. Thank you for maintaining access to these lectures..
dannyboy0920 5 months ago
For example: Marfan, autosomal dominant, reduced penetrance was discovered only after testing.
Background: A daughter suddenly died. Nobody knew what caused it. After testing, the mom carried the gene but the mom did not manifest the disease. Low penetrance, variable expressivity.
Marieannie2 2 years ago
Dr Menarsik, what do you mean exactly by reduced penetrance?
SD777 2 years ago
hehe round like women should be..
mamaalik12 3 years ago 2