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

Cytogenet Genome Res. 2016;150(1):46-51. doi: 10.1159/000452144. Epub 2016 Nov 9.


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.

Publication types

  • Case Reports

MeSH terms

  • Chromosome Duplication / genetics
  • Chromosomes, Human, Pair 13 / genetics*
  • Chromothripsis*
  • Humans
  • Language Development Disorders / genetics
  • Male
  • Oligonucleotide Array Sequence Analysis
  • Polymorphism, Single Nucleotide / genetics
  • Recurrence
  • Stroke / genetics*
  • Young Adult