FINAL EXAM NATIONAL BOARD OF EXAMINATIONS
DECEMBER 2017

POSSESSION/USE OF CELL PHONES OR ANY SUCH ELECTRONIC GADGETS IS NOT PERMITTED INSIDE THE EXAMINATION HALL.
MEDICAL GENETICS
PAPER-II
GENE/D/17/53/II
TIME 3 HOURS
MAX. MARKS 100
• Attempt all questions in order.
• Each question carries 10 marks.
• Read the question carefully and answer to the point neatly and legibly.
• Do not leave any blank pages between two answers.
• Indicate the question number correctly for the answer in the margin space
• Answer all the parts of a single question together.
• Start the question to a question on a fresh page or leave adequate space between two answers.
• Draw table/diagrams/flowcharts wherever appropriate.
Write Short notes on:
1. a. What are spino-cerebellar-ataxias
b. How are different varieties inherited?
c. How do you diagnose the common varieties in the
laboratory?

2. a. What are the causes of stroke in young?
b. Discuss approach to diagnosis of a 26 year male
with stroke.
4+6
3. a. What are autosomal recessive congenital icthyosis

b. How will you counsel the family of a baby born with
ARCA?
6+4
4. a. How do you clinically diagnose achondroplasia?
b. How will you confirm the diagnosis by molecular
testing?
c. What surveillance protocol and management issues
you will discuss with the family?

5. a. What are the common causes of developmental
delay in a child?
b. What will be your counseling issues for prenatal
testing in next pregnancy for the family with a child
with Down syndrome
5+5
6. a. What are the different methods of aneuploidy
screening during pregnancy?
b. Mention the advantages and disadvantages of NIPT
(Non-invasive prenatal testing).
6+4

7. a. What are the causes of recurrent spontaneous
abortions in a couple?
b. How will you counsel a couple with one partner
being carrier of a 'balanced translocation'?
6+4
8. a. What are the different soft-markers of aneuploidies
detected by fetal ultrasound?
b. How will you investigate for non-immune fetal
hydrops?
4+6
9. a. What are the different invasive methods for prenatal
testing?
b. Mention the procedure and indications of each of
them.
3+7
10. a. What are the different causes of indirect
hyperbilirubinenia in a new born?
b. How will you investigate and counsel a couple who
has history of a previous baby who died at 2 month
of age with jaundice and neurological signs?
4+6