MRCPCH FOP/TAS Archive - Page 53 of 115

Which of the given pathologies follow the autosomal dominant pattern of inheritance?

Genetic point mutation occurs in which of the given genetic abnormalities?

Which one of the following fulfils the diagnostic criteria for neurofibromatosis type 1?

Which of the following features is least likely to be present in a 14-year-old girl with Down’s syndrome?

A boy with Tay-Sachs disease has a sister who is normal and healthy. What is her risk of being a carrier for the condition?

Which is true regarding XYY syndrome?

Which of the following conditions does not manifest as an autosomal-recessive inheritance?

Which of the following conditions is due to a deletion of chromosome 15q inherited from the father?

Which of the following conditions is inherited in an autosomal recessive fashion?

Which of the following conditions is NOT autosomal dominant?