Rajiv Gandhi University of Health Sciences, Karnataka
Fellowship Examination - 23-Aug-2024
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[Time: 3 Hours] [Max. Marks: 100]
PAEDIATRIC GENETICS - PAPER-II
QP Code: 4142
Your answers should be specific to the questions asked.
Draw neat labeled diagrams wherever necessary.
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Answer All The Questions 10 X 10 = 100 Marks
- Clinical approach to a floppy infant.
- Dermatological manifestations in Tuberous sclerosis.
- Marfan syndrome clinical manifestations and inheritance pattern.
- Genetic counselling in Turner syndrome.
- Multiplex ligation — dependent probe amplification (MLPA) its use in clinical diagnosis.
- Bardet - Biedel syndrome clinical manifestations and inheritance pattern.
- Give an example of imprinting disorders and write a brief note on any one of them.
- What are the clinical manifestations of chromosomal triploidy and what are the mechanisms that cause it?
- Clinical manifestations in Chromosome 22q microdeletion syndrome.
- What are the disorders in which Exon skipping (AON) therapy has been attempted?
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