Title

Constitutional Chromoanagenesis of Distal 13q in a Young Adult with Recurrent Strokes

Document Type

Article

Publication Date

2016

Keywords

Chromoanasynthesis, Chromosome 13q, Chromothripsis, SNP microarray

Abstract

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)

https://doi.org/10.1159/000452144

Citation / Publisher Attribution

Cytogenetic and Genome Research, v. 150, issue 1, p. 46-51

Was this content written or created while at USF?

Yes

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