Chapter 15 - Introduction

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To fully appreciate this tutorial, you should be familiar with the concepts of:
• Allele
• Phenotype and genotype
• Karyotype
• Human genome

After this tutorial, you will be able to describe:
• Aneuploidy
• Nondisjunction
• Translocation
• Autosomal recessive traits

How do mutations and chromosome abnormalities cause human disease?

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Sex chromosome abnormalities
Chromosome aneuploidy: autosomes
Chromosome structural abnormalities
Single gene mutations
Summary

Numerous human diseases result from genetic disorders. Some diseases are caused by single gene mutations, whereas other diseases are due to abnormalities in chromosome number or structure. Although chromosome abnormalities and mutations both cause disease, they do so via different mechanisms, are diagnosed differently, and engender different potential treatments and precautions.