MRCOG Part 1 – Genetics -SBA

1. Which of the following disease reflect following pedigree?

2. The disease shown in the image inheritance is

3.

The above clinical syndrome shown in inheritance is

4. A pregnant woman attends the antenatal clinic with a family history of Genetic tests have been performed on her and her partner that have revealed they are both carriers ofcystic fibrosis. Both carriers of the most common mutation associated with cystic fibrosis: the deltaF508 mutation
The woman and her partner have some questions, which they put to you in clinic.
Her sister’s husband has a sister affected with cystic fibrosis deficiency and has asked your patient to make enquiries for her. What is the chance her sister and her husband will have an affected child? Neither of them have had any genetic tests.

5. The event shown in image happens in

6. Which type of aneuploidy is shown in the image?

7. The baby shown below is having trisomy. What is the characteristic of chromosome affected

8. Which of the following conditions follows an autosomal recessive inheritance pattern

9. A 16-year-old girl presents to the gynaecology outpatient clinic with primary amenorrhoea. She is 148 cm tall and weighs 54 kg (BMI 24.7). Breast development is assessed as Tanner stage 2 and her pubic hair is noted to be sparse. Further examination identifies cubitus valgus. She has no other dysmorphic features. What is the most likely diagnosis?

10. Mrs. A is in an early pregnancy clinic. She is now 13weeks pregnant, she is asking for your advice for Down’s syndrome screening. What would you advise her?

11. Mrs. Lovely, 4o year old, is in her first pregnancy late booker. Now she is 16 weeks pregnant. She is recently diagnosed as HIV positive not any medications as her Downs syndrome risk is high 1in 100. She is advised to get invasive prenatal tests.
Her prenatal tests suggestive of Downs syndrome. In following image which one shows Down’s syndrome

12. Regarding structure of DNA all are true except

13. Which type of inheritance is shown in the image?

14.

This cell is in which stage of meiosis

15. Mrs.Babitha , A 45-year-old women gravid 1 para 0 is referred to antenatal clinic for booking. She misses her dating scan. She is now 16 weeks’ pregnant and her booking bloods reveal normal haematological and biochemical tests. However, her quadruple test reveals
low levels of AFP (α-fetoprotein)
high levels of ß-hCG
Low levels of oestriol
High levels of inhibin A.
What is the probality of Karyotyping report following amniocentesis would be

16. Mr, Stuart is 26year old Presented with features of sub-fertility with clinical features in image enclosed ?

Identify the labelled image corresponding karyotyping?

17. Mrs, X, 30 years old just finished her anomaly scan at 20 weeks of gestations. Her ultrasound report presents severe IUGR, Choroid plexus cyst, over riding of fingers, horse shoe shaped kidney rocker bottom feet.
Her prenatal, results depicted in image

18. Mrs, Ruby, 35 year-old woman had a second trimester miscarriage at 19 weeks of gestation. The baby was growth restricted, had polydactyly in the upper limbs and cleft lip and palate on external examination. The postmortem examination revealed features of holoprosencephaly and ventricular septal defect (VSD).
What is the most likely diagnosis on karyotyping?

19. Mrs, rosy A 20 -year-old school teacher has come to see you in antenatal clinic. She is at 10 weeks of gestation in her first pregnancy. Her partner is known to have glucose 6-phosphatase deficiency. She is otherwise fit and healthy. She has been tested negative for the condition.
What is the risk of her child being a carrier for the same condition?

20. Which is the most common trisomy in humans which causes major anomalies in fetus ?