Genetic disorders

Pediatrics

Genetic disorders

Exam Yield

Probability of getting 1 Question from this chapter 64%
Ease of Revision 8.2 / 10

Read the genetic and clinical features and you can easily score.

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

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