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  • Question 1 - A women has undergone genetic testing due to her family history and has...

    Correct

    • A women has undergone genetic testing due to her family history and has the BRCA 1 gene. What would you advise her lifetime risk of breast cancer is?

      Your Answer: 70%

      Explanation:

      The life time risk of breast cancer in BRCA 1 gene is 70% and of ovarian cancer is 40%.

    • This question is part of the following fields:

      • Genetics
      4.2
      Seconds

  • Question 2 - You are called to assist in an initially midwife led delivery. Upon delivering...

    Correct

    • You are called to assist in an initially midwife led delivery. Upon delivering a female baby you notice the baby has partial fusion of the labioscrotal folds. You suspect congenital adrenal hyperplasia. Which of the following genes is most likely to be mutated?

      Your Answer: CYP21A

      Explanation:

      CAH leads to virilization of the female foetus. It occurs to an enzyme deficiency (21-hydroxylase). This results in a reduced levels of corticosteroids from being circulated resulting in hyperplasia of the adrenal glands and increased progesterone production. The CYP21A gene has been implicated in causes this deficiency.

    • This question is part of the following fields:

      • Genetics
      1.2
      Seconds

  • Question 3 - Regarding Turner syndrome which of the following statements is true? ...

    Correct

    • Regarding Turner syndrome which of the following statements is true?

      Your Answer: Only 1% of affected foetuses will survive to term

      Explanation:

      The incidence of 45,XO turner syndrome is around 1 in 8000 live births. Approximately 1% of monosomy X female embryos survive. Phenotypically they are females and 90% do not develop secondary sexual characteristics and hormone replacement is required.

    • This question is part of the following fields:

      • Genetics
      8
      Seconds

  • Question 4 - A women has undergone genetic testing due to her family history and has...

    Correct

    • A women has undergone genetic testing due to her family history and has the BRCA 2 gene. What would you advise her lifetime risk of breast cancer is?

      Your Answer: 45%

      Explanation:

      The life time risk of breast cancer in BRCA 2 gene is 45% and of ovarian cancer is 15%.

    • This question is part of the following fields:

      • Genetics
      2.3
      Seconds

  • Question 5 - Which of the following statements regarding BRCA gene mutations is true? ...

    Correct

    • Which of the following statements regarding BRCA gene mutations is true?

      Your Answer: They account for around 25% of inherited breast cancers

      Explanation:

      Hereditary breast cancers account for 10 % of the cases. BRCA gene mutations account for 25 % of these cancers.

    • This question is part of the following fields:

      • Genetics
      4.3
      Seconds

  • Question 6 - What is the mode of inheritance of beta Thalassemia? ...

    Correct

    • What is the mode of inheritance of beta Thalassemia?

      Your Answer: Autosomal recessive

      Explanation:

      Beta Thalassaemia is autosomal recessive.

    • This question is part of the following fields:

      • Genetics
      2.1
      Seconds

  • Question 7 - All are true about monozygotic pregnancy, EXCEPT: ...

    Correct

    • All are true about monozygotic pregnancy, EXCEPT:

      Your Answer: The 1st commonly presents as breech

      Explanation:

      The 1st commonly presents as cephalic. Monozygotic (MZ) twins originate when a single egg is fertilized to form one zygote, which then divides into two embryos. Although they share the same genotype they are not phenotypically identical.

    • This question is part of the following fields:

      • Genetics
      4.4
      Seconds

  • Question 8 - The following are true for dizygotic twins EXCEPT: ...

    Incorrect

    • The following are true for dizygotic twins EXCEPT:

      Your Answer:

      Correct Answer: Both twins are identical & of the same sex

      Explanation:

      Dizygotic means two (di) fertilized eggs (zygotes). Dizygotic twins occur when two eggs are fertilized by two separate sperm. Dizygotic twins are also known as fraternal or non-identical twins. They are the most common type of twins.

      Unlike monozygotic twins (also known as identical twins), dizygotic twins do not share the same genes. Monozygotic twins share 100 percent of each other genes. Dizygotic twins share only 50 percent. This is the same genetic similarity found between siblings conceived and born at different times.

    • This question is part of the following fields:

      • Genetics
      0
      Seconds

SESSION STATS - PERFORMANCE PER SPECIALTY

Genetics (7/7) 100%
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