Cystic Fibrosis Pedigree Chart

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.

種類系図規格 NSGC Pedigree Standardization (Bennett 2008)エンジン schematex-pedigree更新日 2026/9/24

依頼内容

“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.”

次はこちらAdd ages at diagnosis for the affected family members.Mark the proband's siblings as tested or untested.

この図に含まれるもの

図の背後にある意思決定を読み解く。

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.

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よくある質問

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.