Chromosome — UPSC CMS MCQs (Medicine)

Question 1

Which of the following are examples of genomic imprinting?
1. Angelman syndrome
2. Williams syndrome
3. Prader-Willi syndrome
4. DiGeorge syndrome
Select the correct answer using the code below:

Accepted Answer

A. 1 and 3

Answer

1 and 2

Answer

2 and 3

Answer

2 and 4

Question 2

Which of the following syndromes are caused due to genomic imprinting ?
I. Rubinstein Taybi syndrome
II. Prader-Willi syndrome
III. Angelman syndrome
IV. Edward syndrome
Select the correct answer using the code given below :

Accepted Answer

B. II and III

Answer

I and III

Answer

II and IV

Answer

I and IV

Question 3

Which of the following are correct regarding androgen insensitivity syndrome?
1. Inherited as X-linked recessive disorder
2. Karyotype is 46 XXY
3. It is also called testicular feminization
4. Confirmation of diagnosis by gonadal biopsy Select the answer
using the code given below.

Accepted Answer

C. 1, 3 and 4

Answer

1, 2 and 3

Answer

1, 2 and 4

Answer

2, 3 and 4

Question 4

Which of the following statements are correct regarding Familial Adenomatous Polyposis?
(1) It is associated with mutation of the APC gene located on the short arm of chromosome 5.
(2) It is inherited as an autosomal recessive condition.
(3) It is associated with a 100% lifetime risk for development of Colorectal Carcinoma.
(4) Congenital hypertrophy of the retinal pigment epithelium is present in half of the cases of familial adenomatous polyposis. which is correct answer

Accepted Answer

C. 1,3 and 4

Answer

1,2 and 3

Answer

1,2 and 4

Answer

2,3 and 4

Question 5

Autosomal dominant mutations in which one of the following genes may cause focal segmental glomerulosclerosis associated with abnormal genitalia, Wilm's tumour and mental retardation?

Accepted Answer

A. WT1

Answer

INF2

Answer

LMX1B

Answer

APOL1

Question 6

Which of the following statements regarding G6PD enzyme deficiency are correct?
1. It is an X-linked deficiency.
2. Geographical distribution parallels the malaria belt.
3. Consumption of fava beans is protective.
4. Transfusion support may be life-saving.
Select the correct answer using the code:

Accepted Answer

B. 1, 2 and 4

Answer

1 and 3 only

Answer

1 and 4 only

Answer

2, 3 and 4

Q1. Which of the following are examples of genomic imprinting? 1. Angelman syndrome 2. Williams syndrome 3. Prader-Willi syndrome 4. DiGeorge syndrome Select the correct answer using the code below:

Q2. Which of the following syndromes are caused due to genomic imprinting ? I. Rubinstein Taybi syndrome II. Prader-Willi syndrome III. Angelman syndrome IV. Edward syndrome Select the correct answer using the code given below :

Q3. Which of the following are correct regarding androgen insensitivity syndrome? 1. Inherited as X-linked recessive disorder 2. Karyotype is 46 XXY 3. It is also called testicular feminization 4. Confirmation of diagnosis by gonadal biopsy Select the answer using the code given below.

Q5. Autosomal dominant mutations in which one of the following genes may cause focal segmental glomerulosclerosis associated with abnormal genitalia, Wilm's tumour and mental retardation?