Rajiv Gandhi University of Health Sciences, Karnataka
Fellowship Examination — 07-Sep-2023
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[Time: 3 Hours] [Max. Marks: 100]
PAEDIATRIC GENETICS - PAPER-1
QP Code: 4141
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
- Diagnosis and management of a child with infantile onset Pompe disease.
- Genetics of sickle cell anemia and newer therapies.
- Ellis van Creveld syndrome.
- Chorionic villous sampling its application in prenatal diagnosis.
- What are some of the uses of a fetal MRI and when can it be done in pregnancy?
- What are the implications of stippled calcification of epiphyses in a fetus?
- Name three genetic syndromes associated with retinitis pigmentosa along with their inheritance pattern.
- What are the conditions in which hemi-vertebrae may be seen? List the clinical features in any one of them.
- Role of bone marrow transplantation in genetic disorders.
- Organic acidemias.
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