Page 1 of 1: mcq "8"

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Question 10. Indicate which of the following statements are true.

a) Locus heterogeneity explains pleiotropy.
True False

b) Offspring of a male with a mitochondrial disorder are not at risk of inheriting the disorder from their father.
True False

c) Triplet expansions as a type of mutation can explain the phenomenon of anticipation.
True False

d) The variation in severity of mitochondrial inherited disorders can be explained by heteroplasmy.
True False

e) Anticipation in Huntington's disease occurs with maternal transmission.
True False

Question 11. Neural tube defects:

a) are best classified as disruptions.
True False

b) usually show multifactorial inheritance.
True False

c) can be caused by a teratogen.
True False

d) can be prevented by folic acid periconceptional supplementation.
True False

e) can be diagnosed during pregnancy by specific DNA mutation analysis.
True False

Question 12. The following conditions are more common in girls than in boys:

a) Myotonic dystrophy.
True False

b) Vitamin D-resistant rickets.
True False

c) Duchenne muscular dystrophy.
True False

d) Turner's syndrome.
True False

e) Pyloric stenosis.
True False

Question 13. In uniparental disomy which of the following statements are true?

a) 2 copies of homologous chromosomes can be from one parent.
True False

b) 2 copies of a single chromosome can be from one parent.
True False

c) It can occur in Prader-Willi syndrome.
True False

d) It can occur in myotonic dystrophy.
True False

e) It has been reported in cystic fibrosis.
True False

Question 14. The following drugs/infections are teratogenic.

a) Phenytoin/Dilantin
True False

b) Thalidomide
True False

c) Valproate
True False

d) Salicylates
True False

e) Rubella
True False

Question 15. Deletions are the commonest types of mutation found in the following:

a) Huntington's disease.
True False

b) Spinal muscular atrophy.
True False

c) Cystic fibrosis.
True False

d) Haemophilia A.
True False

e) Duchenne muscular dystrophy.
True False

Question 16. Indicate which of the following statements are true.

a) In myotonic dystrophy concordance for monozygotic twins is 50%.
True False

b) In cystic fibrosis concordance for dizygotic twins is 25%.
True False

c) In chromosomal disorders concordance for monozygotic twins is 100%.
True False

d) In schizophrenia concordance for monozygotic twins is greater than for dizygotic twins.
True False

e) In infectious diseases concordance rates in dizygotic and monozygotic twins are approximately the same.
True False

Question 17. Huntington's disease:

a) shows anticipation in maternal transmission.
True False

b) is caused by expansion of a triplet repeat.
True False

c) is equally severe in homozygotes and heterozygotes.
True False

d) usually presents in the teenage years.
True False

e) can be treated successfully by gene therapy.
True False

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