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Constitutional Chromoanagenesis of Distal 13q in a Young Adult with Recurrent Strokes.
- Source :
-
Cytogenetic & Genome Research . Jan2017, Vol. 150 Issue 1, p46-51. 6p. 3 Black and White Photographs, 1 Chart, 1 Graph. - Publication Year :
- 2017
-
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 chromo-anasynthesis involving distal 13q (13q32.1q34). This report emphasizes the value of performing microarray analysis for individuals with abnormal or complex chromosome rearrangements. [ABSTRACT FROM AUTHOR]
- Subjects :
- *STROKE
*CHROMOTHRIPSIS
*CYTOGENETICS
*YOUNG adults
*CHROMOSOMES
Subjects
Details
- Language :
- English
- ISSN :
- 14248581
- Volume :
- 150
- Issue :
- 1
- Database :
- Academic Search Index
- Journal :
- Cytogenetic & Genome Research
- Publication Type :
- Academic Journal
- Accession number :
- 120710964
- Full Text :
- https://doi.org/10.1159/000452144