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GENETICS & IEM : DNB Theory Questions
GENETICS & IEM : DNB Theory Questions
These are Questions on GENETICS & IEM asked in DNB Theory Exams. They are arranged topic wise till 2011.
| 1 | write briefly about glucose metabolism in body. Describe briefly glycogen storage disorders. | metabolic disorders | 2004 | |
| 2 | Laboratory screening tests for metabolic disorders | metabolic disorders | 2006 | |
| 3 | Classify metabolic acidosis based on anion gap. Mention the various causes of lactic acidosis. Describe the approach to diagnose of inborn error of metabolism in infant. | metabolic disorders | 2008 | |
| 4 | Discuss the enzyme replacement therapy and substrate reduction strategies in management of metabolic disease. | metabolic disorders | 2008 | |
| 5 | provide a diagrammatic representation of urea cycle. Indicate and name related disorders of urea cycle metabolism at each step. | metabolic disorders | 2008 | |
| 6 | the possible conditions which couls result in a 24 month old child with history of regression of milestones over the past 8 months. He also has hepatomegaly. Detail the clinical manifestations of Tay Sach disease. | metabolic disorders | 2008 | |
| 7 | discuss the methods of detection of congenital malformation in foetus and their prevention | geneitics | 1995 | |
| 8 | SN genetic counseling in a case of Down’s syndrome | genetics | 1999 | |
| 9 | SN prenatal diagnosis of Down’s syndrome and Duchenne muscular dystrophy | genetics | 2002 | |
| 10 | Briefly discuss the principles of genetic counselling. Outline the counseling of a family with a child with Down’s syndrome | genetics | 2004 | |
| 11 | Gene therapy in children | genetics | 2006 | |
| 12 | Describe the symbols used in pedigree chart. Draw pedigree charts over 4 generations depicting X linked dominant and X linked recessive disease. | genetics | 2008 | |
| 13 | Enumerate and describe the structural abnormaities of autosomes. Illustrate with suitable examples. | genetics | 2008 | |
| 14 | What are trisomies? What are predisposing factors? Discuss the clinical features of 3 common trisomies seen in clinical practice. | genetics | 2008 | |
| 15 | A couple has a child with Down syndrome. Outline the principles of genetic counselling and antenatal management of subsequent pregnancy. | genetics | 2009 | |
| 16 | SN Gene therapy | genetics | 2007 | |
| 17 | What are mithochondrial genes? How are they transmitted? Briefly discuss diseases transmitted by them? | genetic | Dec.11 | 2+2+6 |
| 18 | What are mutations ? Describe their consequences. | genetic | June.10 | 5+5 |
| 19 | Discuss the genotypic & phenotypic features of Turner’s syndrome. | Genetic | June.11 | 4+6 |
| 20 | Enlist the inborn errors of metabolism (IEM) with their associated peculiar odour. Provide the investigative approach for an infant with suspected IEM. Describe the treatment of phenylketonuria. | IEM | Dec.2009 | 4+4+2 |
| 21 | Outline the characteristic features of primary immunodeficiency. Write in detail about pathogenesis & clinical features of chronic granulomatous disease. | immunodefi | June.11 | 4+3+3 |
| 22 | Enlist the humoral immunodeficiency disorders. Outline the diagnostic approach & treatment. | Immunodeficiency | June.10 | 4+6 |