Download Diplomate of National Board (DNB) 2020 December MedIcal GenetIcs Paper II Question Paper
NATIONAL BOARD OF EXAMINATIONS
DECEMBER 2020
MEDICAL GENETICS
PAPER-II
Time: 3 hours
MED.GEN/D/20/53/II
Max. Marks:100
Important Instructions:
You are provided with 5 answer sheet booklets. Each individual answer sheet booklet consists
of 10 pages excluding the covering jackets.
Answers to all the questions must be attempted within these 5 answer sheet booklets which
must be later tagged together at the end of the exam.
No additional supplementary answer sheet booklet will be provided.
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 answer 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. Approach to diagnosis and investigations of a child with intellectual
5+5
disability and ichthyosis.
2. A 4-year-old child with prelingual sensorineural hearing loss is referred to
10
you for genetic evaluation after acquired causes have been excluded.
Describe your approach for this child.
3. Discuss the management and follow up of a 5-year boy with abnormal
7+3
behavior of recent onset on a setting of mild to moderate intellectual
disability and high homocysteine and urine GC-MS showing a
methylmalonate peak.
4. A newborn screen flags off a high immunoreactive trypsinogen (IRT). The
10
10 days old boy is referred to you for further evaluation. How will you
proceed?
5. You have received a report of NGS for an asymptomatic child who has an
10
MRI consistent with a diagnosis of X linked adrenoleukodystrophy. The boy
is asymptomatic. There is history of a similar disorder in his maternal aunt's
son. He has one maternal aunt who has this one affected boy and one
unaffected maternal uncle who does not have children. No other member
in the family is affected. The variant is a "variant of unknown significance".
Please draw the pedigree with the above available information. How will
you further examine to determine the significance of this variant?
6. Neuronopathic Gaucher disease ? types, clinical and diagnostic 2+5+3
considerations.
7. Etiology and counseling for a lady at 18 weeks gestation with bilateral
5+5
enlarged echogenic kidneys.
8. A child born to non-consanguineous parents has hemihyperplasia noted at
5+5
5 months of age. What is your approach to diagnosis and management?
P.T.O
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POSSESSION/USE OF CELL PHONES OR ANY SUCH ELECTRONIC GADGETS IS NOT PERMITTED INSIDE THE
EXAMINATION HALL.
FINAL EXAM
NATIONAL BOARD OF EXAMINATIONS
DECEMBER 2020
MEDICAL GENETICS
PAPER-II
9. How will you approach to counsel a lady with congenital heart disease and
10
history of exposure to warfarin in the first trimester of pregnancy?
10. A child with history of photosensitivity over the sun exposed areas with
5+5
blisters, discoloured teeth and nails is referred to you. Outline your
differential diagnosis and approach to diagnosis.
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-2-
POSSESSION/USE OF CELL PHONES OR ANY SUCH ELECTRONIC GADGETS IS NOT PERMITTED INSIDE THE
EXAMINATION HALL.
This post was last modified on 31 July 2021