Genetic Diseases
M. Chadi Alraies
Franklin A. Michota
RAPID BOARD REVIEW—KEY POINTS TO REMEMBER:
Most diseases encountered in the practice of medicine have genetic components in both the cause and the pathogenesis.
The process of considering, ordering, and interpreting a genetic test is not straightforward.
Inheritance Patterns
Autosomal Dominant
Multigenerational presence of symptoms and equal involvement of sexes
One copy of a gene pair needs to be altered for clinical symptoms to appear (heterozygous)
Conditions often caused by aberrant structural or developmental processes, and only a minority result from enzymatic defects
Autosomal Recessive
Two gene copies altered (homozygous); heterozygotes are unaffected
Equal involvement of both sexes; affected individuals in the same single generation; absence of the disease appearing in multiple generations
X-Linked Recessive
Virtually all males are affected clinically, with rare symptomatic females
All daughters of an affected male are carriers of the mutated allele; the risk for any of the daughters’ sons to inherit the gene responsible for the condition is 50%
X-Linked Dominant
Related posts:
Stay updated, free articles. Join our Telegram channel
Full access? Get Clinical Tree
