Constitutional Chromoanagenesis of Distal 13q in a Young Adult with Recurrent Strokes
Chromoanasynthesis, Chromosome 13q, Chromothripsis, SNP microarray
Constitutional chromoanagenesis events, which include chromoanasynthesis and chromothripsis and result in highly complex rearrangements, have been reported for only a few individuals. While rare, these phenomena have likely been underestimated in a constitutional setting as technologies that can accurately detect such complexity are relatively new to the mature field of clinical cytogenetics. G-banding is not likely to accurately identify chromoanasynthesis or chromothripsis, since the banding patterns of chromosomes are likely to be misidentified or oversimplified due to a much lower resolution. We describe a patient who was initially referred for cytogenetic testing as a child for speech delay. As a young adult, he was referred again for recurrent strokes. Chromosome analysis was performed, and the rearrangement resembled a simple duplication of 13q32q34. However, SNP microarray analysis showed a complex pattern of copy number gains and a loss consistent with chromoanasynthesis involving distal 13q (13q32.1q34). This report emphasizes the value of performing microarray analysis for individuals with abnormal or complex chromosome rearrangements.
Digital Object Identifier (DOI)
Citation / Publisher Attribution
Cytogenetic and Genome Research, v. 150, issue 1, p. 46-51
Scholar Commons Citation
Burnside, R. D.; Harris, A.; Speyer, D.; Burgin, W. S.; Rose, D. Z.; and Sanchez-Valle, A., "Constitutional Chromoanagenesis of Distal 13q in a Young Adult with Recurrent Strokes" (2016). Neurology Faculty Publications. 51.
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