GENETICS

Cystic fibrosis pedigree.

This clinical pedigree follows cystic fibrosis through three generations. It uses the standard square and circle symbols for sex and shading or carrier marks for genetic status. The affected proband makes the reason for referral clear, while the carrier parents show why an autosomal recessive condition can appear in a child of unaffected adults. The second generation also shows that a carrier sibling may have affected children with another carrier partner. A genetic counselor can use this kind of drawing to gather a family history, explain recurrence, and identify relatives who may want testing. It is a teaching example, not a substitute for a genetic test result or clinical advice.

UPDATED 2026-09-24
EXAMPLECystic fibrosis pedigree.
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CASE ANALYSIS

Scenario

Genetic counseling

Key decisions

  • Carrier parents: Both parents carry one CFTR variant.
  • Index case: The affected son is the proband.
  • Sibling status: The family includes carrier and unaffected siblings.

When to reuse this

Use this pedigree when explaining autosomal recessive inheritance and discussing family testing.

FAQ

Frequently asked questions

What does a carrier mean in this pedigree?01
A carrier has one disease-associated copy of a recessive gene and usually does not have the condition.
Why are the parents unaffected?02
People with one recessive variant are often unaffected but can pass that variant to their children.
Who is the proband?03
The proband is the family member whose case led to the clinical assessment.
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