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Molecular assay reagents intended to for use in identifying stable and usually irreversible modifications of normal chromosomes that may cause disorders in humans, including uniparental disomy, in which both members of a chromosome pair are inherited from one parent, and trisomy, in which three copies of a chromosome are present rather than the normal two; changes (inversions, deletions) in the sequence of the genetic order; and translocations of different chromosomes or parts of the same chromosome. Chromosome anomalies may be de novo or inherited (familial).
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