Rajiv Gandhi University of Health Sciences, Karnataka
Fellowship Examination — 24-Aug-2021
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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
- Enzyme replacement therapy in Lysosomal storage disorders.
- Clinical features and inheritance pattern in Fanconi pancytopenia.
- Achondroplasia genetic alteration and therapies.
- Amniocentesis in prenatal diagnosis.
- Nuchal translucency ultrasound scan in a fetus.
- Cherry red spot in the eye.
- Congenital sensorineural hearing loss an approach to diagnosis.
- Sturge-Weber syndrome.
- Primary immune deficiency (PID) inheritance and treatment.
- Trisomy 13 syndrome.
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