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FINAL EXAM
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DECEMBER 2017
MEDICAL GENETICS
PAPER-II
GENE/D/17/53/11
TIME : 3 HOURS
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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.
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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:
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- a. What are spino-cerebellar-ataxias (SCA)? 5+3+2
b. How are different varieties inherited?
How do you diagnose the common varieties in the laboratory? - What are the causes of stroke in young? 4+6
Discuss approach to diagnosis of a 26 year male with stroke. - a. What are autosomal recessive congenital ichthyosis (ARCA)? 6+4
b. How will you counsel the family of a baby born with ARCA? - How do you clinically diagnose achondroplasia? 4+2+4
How will you confirm the diagnosis by molecular testing?
c. What surveillance protocol and management issues you will discuss with the family? - a. What are the common causes of developmental delay in a child? 5+5
b. What will be your counseling issues for prenatal testing in next pregnancy for the family with a child with Down syndrome - a. What are the different methods of aneuploidy screening during pregnancy? 6+4
b. Mention the advantages and disadvantages of NIPT (Non-invasive prenatal testing). - a. What are the causes of recurrent spontaneous abortions in a couple? 6+4
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b. How will you counsel a couple with one partner being carrier of a ‘balanced translocation’? - a. What are the different soft-markers of aneuploidies detected by fetal ultrasound? 4+6
b. How will you investigate for non-immune fetal hydrops? - a. What are the different invasive methods for prenatal testing? 3+7
b. Mention the procedure and indications of each of them. - a. What are the different causes of indirect hyperbilirubinemia in a new born? 4+6
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?
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FirstRanker.com
Firstranker's choice
FINAL EXAM
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DECEMBER 2017
POSSESSION/USE OF CELL PHONES OR ANY SUCH EQUIPMENT IS NOT PERMITTED INSIDE THE EXAMINATION HALL.
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This download link is referred from the post: DNB 2017 Dec Previous Question Papers-(Diplomate of National Board) Under NBE