Key result
Genetic linkage analysis maps Carney complex to a major locus on chromosome 17q2.
Why the study?
Genetic factors that regulate cardiac tumor growth in Carney complex remain unknown.
Population
4 kindreds affected by Carney complex (families YA, YB, YC01, YC11)
Comparison
Genetic linkage analysis with polymorphic short tandem repeats on chromosome 17
Design
Observational linkage analysis study
Authors
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May inform genetic evaluation in Carney complex; leaves open specific gene identification and clinical translation.
Observational (n=4)
Effect estimate: LOD scores up to 5.9
The identification of a major locus on chromosome 17q2 for Carney complex provides a foundation for discovering the specific gene responsible for familial cardiac myxomas.
Casey et al. (1998) conducted an observational in Carney complex and familial cardiac myxomas (n=4). Chromosome 17q2 locus was evaluated on Genetic linkage to chromosome 17q2 (LOD scores up to 5.9). Genetic linkage analysis in 4 kindreds affected by Carney complex identified a major 17 cM locus on chromosome 17q2 with maximal pairwise LOD scores up to 5.9.
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