Constitutional Chromoanagenesis of Distal 13q in a Young Adult with Recurrent Strokes.
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.
Laboratory Corporation of America® Holdings, Research Triangle Park, N.C., USA.
Rachel D
RD
Burnside
April
A
Harris
Darrow
D
Speyer
W Scott
WS
Burgin
David Z
DZ
Rose
Amarilis
A
Sanchez-Valle
D058674:Chromosome Duplication / Q000235:genetics; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics*; D000072837:Chromothripsis; D006801:Humans; D007805:Language Development Disorders / Q000235:genetics; D008297:Male; D020411:Oligonucleotide Array Sequence Analysis; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D012008:Recurrence; D020521:Stroke / Q000235:genetics*; D055815:Young Adult