| What are mutations? Describe their consequences (DNB 2010/1)5+5 | 96 | 2010 |
| What are mitochondrial genes? How are they transmitted? Briefly discuss diseases transmitted by them? (DNB 2011/2)2+2+6 | 97 | 2011 |
| Enumerate classic and non-classic forms of genetic inheritance. Discuss in brief the characteristics of autosomal recessive inheritance. Illustrate with a pedigree chart (DNB 2013/1)5+3+2,(DNB 2013/2)2+2+6 | 97 | 2013 |
| Describe the symbols used in pedigree chart. Draw pedigree charts over 4 generations depicting a) X-linked dominant disease b) X-linked recessive disease (DNB 2016/1)4+3+3 | 97 | 2016 |
| Draw pedigree chart for autosomal dominant inheritance pattern of non-consanguinous parents (DNB 2018/1)5 | 97 | 2018 |
| Patterns of genetic inheritance (DNB 2018/2)5 | 97 | 2018 |
| Diagrammatically illustrate principles of mode of inheritance of genetic disorders (DNB 2019/2)6 | 97 | 2019 |
| Briefly describe the important attributes of various patterns of genetic inheritance (DNB 2020/2)6 | 97 | 2020 |
| Pedigree chart and patterns of inheritance (DNB 2023/1)5 | 97 | 2023 |
| Modes of inheritance (DCH 2023/2)5 | 97 | 2023 |
| Briefly discuss the principles of genetic counselling. Outline the counselling of a family with a child with Down's syndrome (DNB 2004/2) 5+5 | 98 | 2004 |
| Gene Therapy in Children (DNB 2006/1)10 | 98 | 2006 |
| Gene therapy (DNB 2007/1)5 | 98 | 2007 |
| Primary and secondary prevention of genetic disorders (DNB 2016/1)5+5 | 98 | 2016 |
| Principles of gene therapy (DNB 2020/2)5, (DNB 2023/1)5 | 98 | 2020 |
| Gene therapy (DNB 2023/2)5 | 98 | 2023 |
| CRISPR gene editing technology for child health (DNB 2021/1)5 | 98 | 2021 |
| Next-generation sequencing and its indications (DNB 2021/1)5 | 98 | 2021 |
| Indication of Next Generation Sequencing in pediatric hemato-oncology (DNB 2022/1)5 | 98 | 2022 |
| Enzyme Replacement Therapy (DNB 2021/2)5, (DNB 2023/2)5, (DNB 2024/2)5 | 98 | 2021 |
| Clinical Exome sequencing (DNB 2022/2)5 | 98 | 2022 |
| Indications of genetic counselling (DNB 2023/2)5 | 98 | 2023 |
| Define translocation. Write the inheritance pattern for translocations. Describe clinical features of any one translocation disorder (DNB 2016/1)6 | 99 | 2016 |
| Discuss the genotypic and phenotypic features of Turner's syndrome (DNB 2011/1)4+6 | 99 | 2011 |
| Disorders of Genetic imprinting (DNB 2022/2)5 | 99 | 2022 |
| Genomic imprinting (DCH 2023/2)5 | 99 | 2023 |
| Dysmorphic child (DNB 1994/2)15 | 100 | 1994 |
| Classification of birth defects (DNB 2022/1)5 | 100 | 2022 |
| Define craniosynostosis and its types. Name specic syndromes associated with craniosynostosis. Describe the clinical characteristics of common types of craniosynostosis (DNB 2013/2)3+3+4 | 101 | 2013 |
| Craniosynostosis (DNB 2020/2)5 | 101 | 2020 |
| Define clinical exome sequencing (CES) and its uses (DNB 2025/1)5 | 98 | 2025 |
| Cell-free DNA prenatal screening test (DNB 2024/2)5 | 98 | 2024 |