4.4 Review Book Chapter

Putting Medical Genetics into Practice

Journal

Publisher

ANNUAL REVIEWS
DOI: 10.1146/annurev-genom-082410-101451

Keywords

Klinefelter and Turner syndromes; illegitimate recombination; deletion mapping; prenatal diagnosis; chromosome painting; karyotype evolution; monotreme sex chromosomes; bovine spongiform encephalopathy

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This article describes a fragment of history on the growing impact of genetics on the practice of medicine over 50 years, as experienced by a medical geneticist who helped to provide services to patients at risk of genetic disorders. It is a personal account influenced by a fascination with chromosomes that has drawn him into many studies, including sex determination, gene discovery, fetal diagnosis, phylogenomics, and karyotype evolution.

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