June 28, 1996American Journal of Medical Genetics

Genetic counseling of isolated carriers of Duchenne muscular dystrophy

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Population

3 isolated female carriers of Duchenne muscular dystrophy and their families

Design

Case_series

Authors

EHEric P. HoffmanAGADA Biosciences EPElena PegoraroUniversità Cattolica del Sacro Cuore PSPeter C. ScacheriUniversity School

Discussion

Member takes

Implication

Supports counseling for isolated DMD carriers; leaves open validation beyond case reports before wider adoption.

Structured PICO

Population

3 isolated female carriers of Duchenne muscular dystrophy and their families

Intervention

Genetic counseling and prenatal diagnosis using X inactivation patterns and inheritance of X chromosomes

Outcome

Determination of the at-risk dystrophin gene for accurate genetic counseling and prenatal diagnosis

Accurate genetic counseling and prenatal diagnosis can be provided to isolated carriers of Duchenne muscular dystrophy by determining X inactivation patterns and X chromosome inheritance.

Cite This Study

Hoffman et al. (1996) studied this question.

synapsesocial.com/papers/6a90ebe6daee25baa182f6ec https://doi.org/10.1002/(sici)1096-8628(19960628)63:4<573::aid-ajmg11>3.0.co;2-f

View Full Paper

Ask AI

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Genetic counseling of isolated carriers of Duchenne muscular dystrophy

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Genetic counseling of isolated carriers of Duchenne muscular dystrophy

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Also Consider

Also Consider