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

doi:10.1159/000452144

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Article

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

Cytogenetic and genome research - 1 Jan 2016

Burnside Rachel D, Harris April, Speyer Darrow, Burgin W Scott, Rose David Z, Sanchez-Valle Amarilis

Abstract excerpt

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...

Topics

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

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Open in PubMed

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PMID: 27825145
DOI: 10.1159/000452144

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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