A couple has two children affected with tuberous sclerosis. On detailed clinical and laboratory evaluation (including molecular studies) both parents are normal. Which one of the following explains the two affected children in this family ?
Germline mosaicism is seen with osteogenesis imperfecta and tuberous sclerosis. For details, see text.
Non penetrance
Uniparental disomy
Genomic imprinting
Germline mosaicism