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  • Question 1 - You see a patient in fertility clinic who you suspect has Klinefelters. What...

    Correct

    • You see a patient in fertility clinic who you suspect has Klinefelters. What is the likely karyotype?

      Your Answer: 47XXY

      Explanation:

      Klinefelter syndrome occurs in 1:1000 individuals. They are phenotypically male and genotypically they have 47,XXY chromosomes. These individuals have small testes, are tall with disproportionate long lower limbs.40% will also have gynecomastia.

    • This question is part of the following fields:

      • Genetics
      4.6
      Seconds

  • Question 2 - A 40 year old women who is 13 weeks pregnant is found to...

    Correct

    • A 40 year old women who is 13 weeks pregnant is found to have be high risk for Downs following the combined screening test. What is the most appropriate further test to see if the foetus is affected?

      Your Answer: Chorionic Villous Sampling

      Explanation:

      Chorion villus sampling is an invasive procedure which aims to collect the rapidly dividing cells in the placenta. It is used for numerous reasons including detection of early pregnancy, viability of the foetus, singleton pregnancy, confirm gestation age and for prenatal diagnosis of the fetal chromosomal abnormalities including diagnosis of Down’s syndrome. However it hold a 2% chance of miscarriage during the procedure. Nuchal thickness and imaging are part of the combined test that must have been performed before.

    • This question is part of the following fields:

      • Genetics
      6
      Seconds

  • Question 3 - All are true about monozygotic pregnancy, EXCEPT: ...

    Incorrect

    • All are true about monozygotic pregnancy, EXCEPT:

      Your Answer: There is only one placenta

      Correct 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
      8.6
      Seconds

  • Question 4 - 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
      6
      Seconds

  • Question 5 - 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
      5.7
      Seconds

  • Question 6 - Regarding monozygotic twins, all of the following are correct, EXCEPT: ...

    Incorrect

    • Regarding monozygotic twins, all of the following are correct, EXCEPT:

      Your Answer: Is not affected by heredity

      Correct Answer: Has a constant incidence 1:600 births

      Explanation:

      The incidence of monozygotic twins is constant worldwide (approximately 4 per 1000 births). Approximately two thirds of twins are dizygotic.

    • This question is part of the following fields:

      • Genetics
      31.6
      Seconds

  • Question 7 - 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
      16
      Seconds

  • Question 8 - 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
      2.3
      Seconds

  • Question 9 - A pregnant patient who is needle phobic has her nuchal translucency (NT) scan...

    Correct

    • A pregnant patient who is needle phobic has her nuchal translucency (NT) scan but refuses serum markers. You advise her the False Positive Rate of the scan is 5%. What would you advise the mother regarding the detection rate of Down Syndrome using NT alone?

      Your Answer: 70%

      Explanation:

      The nuchal lucency measurement is the measure of the nuchal pad thickness. Children with down syndrome have an increased thickness of the nuchal pad. The risk of down’s syndrome increases with maternal age. The nuchal lucency test has an accuracy rate of 70%.

    • This question is part of the following fields:

      • Genetics
      6.2
      Seconds

  • Question 10 - 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
      4.7
      Seconds

SESSION STATS - PERFORMANCE PER SPECIALTY

Genetics (8/10) 80%
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