04-08-2015, 12:04 PM
a 2 year old boy is brought to the physician becoz of development delay. There is a history of hearing loss in his mother and delayed speech in his older sister. His maternal uncle had stroke like episodes at the age of 25 yrs. PE shows ophthalmoplegia and hypotonia. His serum lactic acidosis conc is raised. which of the following best explains the findings in this family
1) Autosomal domninant
2) decreased penetrance
3) Heteroplasmy
4) Imprinting
5) x linked recessive
1) Autosomal domninant
2) decreased penetrance
3) Heteroplasmy
4) Imprinting
5) x linked recessive