Mendelian cytogenetics. Chromosome rearrangements associated with mendelian disorders.

Abstract excerpt

The first successful mapping of a mendelian disorder by chromosome rearrangements was that of the Duchenne muscular dystrophy locus to Xp21.1-5 Since then, chromosome ab- errations which delete, truncate, or otherwise rearrange and mutate specific genes have not only helped in the mapping of other disease loci,6 but have turned out to be key elements for the rapid isolation of disease genes by positional cloning...

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