Pediatrics
Genetic disorders
Exam Yield
| Probability of getting 1 Question from this chapter | 80% |
| Ease of Revision | 9.28 / 10 |
Question Pattern
This chapter overlaps with Pathology.
The focus is again on awareness of the genetic abnormalities, their inheritance and salient clinical features.
Recent Questions
Questions on this chapter from recent NEET and AIIMS examinations have been about
- Genes and common syndromes
- Genomic imprinting
- Achondroplasia – Clinical Features
- Duchenne muscular dystrophy – Overview
- Pedigree chart interpretation
- Inheritance pattern of important diseases
- Neurofibromatosis 1 – Clinical Features
- Diseases of mitochondrial inheritance
- Uniparental disomy
- Ataxia telangiectasia – Overview
Suggested Revision
- Triple-repeat mutations
- Wiskott- Aldrich syndrome – Overview
- Fragile X syndrome
- NF-1 vs NF-2 – Clinical features & Inheritance