Two Patients with Complex Rearrangements Suggestive of Germline Chromoanagenesis
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DOI: 10.1159/000512898
Abstract: Chromoanagenesis, a phenomenon characterized by complex chromosomal rearrangement and reorganization events localized to a limited number of genomic regions, includes the subcategories chromothripsis, chromoanasynthesis, and chromoplexy. Although definitions of these terms are evolving, constitutional chromoanagenesis… read more here.
Keywords: chromoanagenesis; constitutional chromoanagenesis; copy number; number ... See more keywords