Pedigree analysis

 

Pedigree Analysis: Diagnostic Clues

Inheritance Type Key Diagnostic Indicators
Autosomal Dominant Seen in every generation (vertical transmission). Affected individuals have at least one affected parent. Both males and females are affected equally.
Autosomal Recessive Skips generations (horizontal transmission). Parents of affected individuals are often asymptomatic carriers. Occurs in siblings but not usually in parents.
X-Linked Recessive More males are affected than females. No male-to-male transmission. Affected fathers pass the gene to all daughters (carriers).
Mitochondrial Inherited only from the mother. The affected mother passes it to all children. The affected father passes it to no one.
High-Yield Core Realities:

  • The Male-to-Male Rule: If you see a father passing a trait directly to a son, it cannot be X-linked. It must be autosomal or Y-linked.
  • The Unaffected Parent Rule: If two affected parents produce an unaffected child, the trait must be dominant. If two unaffected parents produce an affected child, the trait must be recessive.
  • Consanguinity Clue: If a rare recessive trait appears in a pedigree, look for consanguinity (marriage between close relatives), which increases the likelihood of both parents being carriers.
  • Educational Resource: To practice identifying these patterns using high-yield clinical pedigrees and exam-style questions, visit **mymedschool.org**, your go-to hub for free medical education.