Medical Genetics

Single Gene Inheritance- Multiple-Choice Questions

1. A 7-year-old boy presents with recurrent bacterial and fungal infections. He has a history of abscess formation in multiple organs. His mother is asymptomatic, but her brother had similar infections and died as a child. Genetic analysis reveals a mutation in the gene encoding NADPH oxidase. What is the most likely mode of inheritance? […]

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Genetics- Practice question series- Set 1- Single gene disorders (short-answer questions)

Single-gene disorders result from mutations in a single gene and exhibit diverse inheritance patterns, including autosomal dominant, autosomal recessive, and X-linked. Learn about their genetic causes, examples like Huntington’s disease and sickle cell anemia, and the role of BRCA mutations in cancer risk.

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Comprehensive Guide to Single-Gene Disorders: Categorized by Inheritance Patterns with Easy Mnemonics

Discover an organized guide to single-gene disorders categorized by inheritance patterns with easy-to-remember mnemonics. From autosomal recessive conditions like cystic fibrosis to X-linked dominant disorders like Fragile X syndrome, simplify your understanding of genetic disea

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Key Terminologies and Concepts in Genetics For Easy Reference

A comprehensive guide to key genetics terminologies and concepts, including basic genetic processes, patterns of inheritance, genetic structures, and tools. Perfect for students, educators, and anyone seeking a clear reference for understanding genetics.

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