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Rajiv Gandhi University of Health Sciences, Karnataka
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Fellowship Examination — 22-Aug-2024
[Time: 3 Hours] [Max. Marks: 100]
PAEDIATRIC GENETICS - PAPER-1
QP Code: 4141
Your answers should be specific to the questions asked
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Draw neat labeled diagrams wherever necessary
Answer All The Questions 10 X 10 = 100 Marks
- Evaluation and management of a child with Gaucher disease.
- Genetics of beta thalassemia and counselling
- Osteogenesis imperfecta: genetic abnormalities and clinical manifestations.
- Cell free fetal DNA and its use in prenatal diagnosis
- Preimplantation genetic diagnosis (PGD).
- Short femur in a fetus, its implications and recurrence.
- An approach to congenital cataract.
- Name some of the syndromes associated with radial ray defect and describe any one.
- Phenylketonuria: the biochemical basis and its management.
- Sensorineural hearing loss (SNHL) and the commonest gene associated with non-syndromic SNHL.
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