The request
“A cystic fibrosis pedigree: two carrier parents have an affected son who is the proband, a carrier daughter and an unaffected son; the carrier daughter and her carrier partner have an affected daughter and an unaffected son.”
Then tryAdd ages at diagnosis for the affected family members.Mark the proband's siblings as tested or untested.
What is in this drawing
Read the decisions behind it.
01Carrier parents
Both parents carry one CFTR variant.
02Index case
The affected son is the proband.
03Sibling status
The family includes carrier and unaffected siblings.
Use this pedigree when explaining autosomal recessive inheritance and discussing family testing.
More like this
Other examples in this family.
FAQ
Common questions
What does a carrier mean in this pedigree?
A carrier has one disease-associated copy of a recessive gene and usually does not have the condition.
Why are the parents unaffected?
People with one recessive variant are often unaffected but can pass that variant to their children.
Who is the proband?
The proband is the family member whose case led to the clinical assessment.