Chromosomal disorders


Chromosomal disorders

Exam Yield

Probability of getting 1 Question from this chapter 82%
Ease of Revision 9.4 / 10

This is very easy Chapter to score from. Straightforward questions that test awareness of Clinical presentations.

If indeed a question comes, that is 4 easy marks.

Question Pattern

The questions have been on 2 aspects:

  • What are the Clinical features?
  • What is the associated chromosomal abnormality.?

Brush up on the diagnostic methods too.

Recent Questions

Questions on this chapter from recent NEET and AIIMS examinations have been about
  • Genomic imprinting
  • Lyon hypothesis
  • Fragile X syndrome – Clinical features
  • Turner’s syndrome – Clinical features
  • Karyotyping procedure
  • Trinucleotide expansion disorders
  • Myotonic dystrophy – associated chromosome
  • Huntington’s Chorea – Clinical features
  • Prader–Willi syndrome – Overview
  • MC chromosomal disorder
  • Diseases of Mitochondrial inheritance

Suggested Revision

  • Klinefelter’s syndrome – Overview
  • Edwards Syndrome – Overview

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