Cytogenetic evidence that the Saethre-Chotzen gene maps to 7p21.2.

doi:10.1002/ajmg.1320470510

Back to search

Article

Cytogenetic evidence that the Saethre-Chotzen gene maps to 7p21.2.

American journal of medical genetics - 1 Oct 1993

Reardon W, McManus S P, Summers D, Winter R M

Abstract excerpt

Evidence for the location of the Saethre-Chotzen acrocephalosyndactyly mutation on 7p21-22 is based on genetic linkage studies in families segregating for this autosomal dominant disorder. Linkage studies were guided by several reports of chromosome deletions in this region giving rise to cranios...

Topics

Acrocephalosyndactylia
Adult
Chromosome Mapping
Chromosomes, Human, Pair 10
Chromosomes, Human, Pair 7
Female
Humans
Infant
Karyotyping
Male
Mutation
Translocation, Genetic

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.