|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.
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.
- 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
- Klinefelter’s syndrome – Overview
- Edwards Syndrome – Overview