Rajiv Gandhi University of Health Sciences, Karnataka
Fellowship Examination — 25-Aug-2021
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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
- Approach to a child with short stature.
- Fragile X syndrome genetic inheritance pattern.
- Neurofibromatosis type I manifestations and inheritance pattern.
- Genetic counselling in Trisomy 21 Down Syndrome.
- Newer therapies for Spino-Muscular Atrophy (SMA).
- Fluorescence in situ hybridization (FISH) uses in clinical diagnosis.
- Prader-Willi syndrome clinical manifestations and type of genetic defect causing it.
- X-linked inheritance pattern.
- Counselling in a couple where one partner has a balanced chromosomal translocation.
- Polycystic kidney disease types and inheritance patterns.
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