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AN75.1-5 | Introduction to Principles of Genetics, Chromosomal Aberrations & Clinical Genetics
Learning Objectives
- Describe structural and numerical chromosomal aberrations with clinical examples (AN75.1)
- Explain the terms mosaics and chimeras with examples (AN75.2)
- Describe the genetic basis and clinical features of Prader-Willi, Edward, Patau, Down, Turner, and Klinefelter syndromes (AN75.3)
- Describe the genetic basis of variation: polymorphism and mutation (AN75.4)
- Describe genetic counselling, karyotyping, FISH, PCR, and genetic sequencing (AN75.5)
INSTRUCTIONS
Work through this guide in two sessions of approximately 45-50 minutes each. Part 1 covers chromosomal structure, numerical and structural aberrations, mosaicism, and chimerism. Part 2 covers the major chromosomal syndromes, genetic variation, and diagnostic techniques. For maximum benefit, sketch the chromosomal rearrangements (translocations, inversions, deletions) as you read — spatial understanding is critical for this topic. Refer to karyotype images in your textbook alongside this guide.
References
- Gray's Anatomy for Students (Drake et al.) (Textbook)
- BD Chaurasia's Human Anatomy (Textbook)
- Clinically Oriented Anatomy (Moore et al.) (Textbook)
- NMC Competency-Based Curriculum 2024
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