Genetics – MRCOG Part 1

1. Regarding structure of DNA all are true except

2. Mr, and MRS, Alexander are her for preconceptional counselling. Both of them are carriers of most common mutation, ΔF508. They want to know chances of them having normal child

3. Ms. Shakeela has come with her partner for genetic counselling. He partner Adam is carrier of Duchenne muscular dystrophy .Ms.shaakeelas status is unknown..All are true regarding the inheritance except

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 of cystic 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. If both parents are carriers for beta thalassemia, what are the chances of this couple having an affected child?

6. Gestation at which Chorionic villus sampling is done

7. Mrs. X, 34 years of age at 17 weeks’ gestation has a 1 in 16 risk of Down syndrome on the quadruple test and wants to confirm fetal karyotype.hse wants to know definitely whetehr her baby would be affected by Down’s or not .which of the following prenatal test you advise her ?

8. Mr&Mr.s Adam, first degree Consanguineous couple, now 11 weeks pregnant. Mrs. Adams, G4 P2L1 A1 with baby girl child with thalassaemia minor, one previous child who died of thalassaemia major and one termination of pregnancy following fetal diagnosis.
not. Which of the following prenatal test you advise her?
Case beta-thalassemia, autosomal recessive with a 25 % chance of recurrence, a CVS would be ideal. CVS can be done at 11 weeks to obtain fetal DNA—allows for earlier diagnosis and, if results are unfavourable, gives the option of a first-trimester TOP.

9. All the following are autosomal dominant diseases except

10. You are conducting basic class in genetics. You begin by explaining that the number of chromosomes in a fetus is how many?

11. A newborn female with edema of the hands and feet.what karyotype it’s suggestive