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OasisLMS
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Catalog
Integrating Clinical Genetics in Clinical Practice
Genetic Disorders and Variations
Genetic Disorders and Variations
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Video Transcription
Video Summary
In this video, the speaker discusses monogenic disorders, which are primarily caused by variants of a single gene. These disorders have a discernible inheritance pattern, and multiple family members may have the same condition. Sometimes, a novel mutation occurs in a child even if their parents do not carry the variant gene. Monogenic disorders can have disease onset at birth, in childhood, or in young adulthood. The video also explores different inheritance patterns, including autosomal dominant, autosomal recessive, X-linked recessive, and X-linked dominant. It briefly mentions other rare inheritance patterns such as Y-linked and mitochondrial disorders. The speaker also discusses the concepts of reduced penetrance, variable expressivity, and imprinting disorders. Two examples of imprinting disorders mentioned are Prader-Willi and Angelman syndromes.
Keywords
monogenic disorders
inheritance pattern
variants of single gene
autosomal dominant
autosomal recessive
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