Prenatal diagnosis of chromothripsis, with nine breaks characterized by karyotyping, FISH, microarray and whole-genome sequencing

What's already known about this topic? Chromothripsis is a recently described phenomenon whereby a single catastrophic event leads to multiple chromosome breaks and subsequent repair through nonhomologous end joining. The result can present karyotypically as a complex rearrangement and occurs b...

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Published in:Prenatal diagnosis Vol. 35; no. 3; pp. 299 - 301
Main Authors: Macera, M. J., Sobrino, A., Levy, B., Jobanputra, V., Aggarwal, V., Mills, A., Esteves, C., Hanscom, C., Pereira, S., Pillalamarri, V., Ordulu, Z., Morton, C. C., Talkowski, M., Warburton, D.
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Published: England Blackwell Publishing Ltd 01-03-2015
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Abstract What's already known about this topic? Chromothripsis is a recently described phenomenon whereby a single catastrophic event leads to multiple chromosome breaks and subsequent repair through nonhomologous end joining. The result can present karyotypically as a complex rearrangement and occurs both congenitally and in cancer cells. What does this study add? We report, to our knowledge, the first case of congenital chromothripsis uncovered prenatally through a combination of G‐banded karyotype analysis and whole‐genome sequencing by jumping libraries. The G‐banded karyotype initially suggested the involvement of five chromosomes and six breakpoints. Whole‐genome sequencing further resolved this event to include nine total breakpoints that disrupt seven independent genes, all in the presence of a normal microarray result. This emphasizes the complementarity that whole‐genome sequencing can provide to the initial karyotype analysis as a reflex test when a rearrangement is detected. We also discuss the dilemma of prognosis with this finding.
AbstractList What's already known about this topic? * Chromothripsis is a recently described phenomenon whereby a single catastrophic event leads to multiple chromosome breaks and subsequent repair through nonhomologous end joining. The result can present karyotypically as a complex rearrangement and occurs both congenitally and in cancer cells. What does this study add?* We report, to our knowledge, the first case of congenital chromothripsis uncovered prenatally through a combination of G-banded karyotype analysis and whole-genome sequencing by jumping libraries. The G-banded karyotype initially suggested the involvement of five chromosomes and six breakpoints. Whole-genome sequencing further resolved this event to include nine total breakpoints that disrupt seven independent genes, all in the presence of a normal microarray result. This emphasizes the complementarity that whole-genome sequencing can provide to the initial karyotype analysis as a reflex test when a rearrangement is detected. We also discuss the dilemma of prognosis with this finding.
What's already known about this topic? Chromothripsis is a recently described phenomenon whereby a single catastrophic event leads to multiple chromosome breaks and subsequent repair through nonhomologous end joining. The result can present karyotypically as a complex rearrangement and occurs both congenitally and in cancer cells. What does this study add? We report, to our knowledge, the first case of congenital chromothripsis uncovered prenatally through a combination of G‐banded karyotype analysis and whole‐genome sequencing by jumping libraries. The G‐banded karyotype initially suggested the involvement of five chromosomes and six breakpoints. Whole‐genome sequencing further resolved this event to include nine total breakpoints that disrupt seven independent genes, all in the presence of a normal microarray result. This emphasizes the complementarity that whole‐genome sequencing can provide to the initial karyotype analysis as a reflex test when a rearrangement is detected. We also discuss the dilemma of prognosis with this finding.
Author Talkowski, M.
Macera, M. J.
Jobanputra, V.
Ordulu, Z.
Morton, C. C.
Aggarwal, V.
Warburton, D.
Pillalamarri, V.
Levy, B.
Sobrino, A.
Esteves, C.
Pereira, S.
Mills, A.
Hanscom, C.
AuthorAffiliation 3 Departments of Genetics and Development and Pediatrics, Columbia University, New York, NY
5 Department of Obstetrics, Gynecology and Reproductive Biology, Brigham and Women’s Hospital, Harvard Medical School, Boston, MA
6 Department of Pathology, Brigham and Women’s Hospital, Harvard Medical School, Boston, MA
4 Center for Human Genetic Research and Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA
1 New York-Presbyterian Hospital, Columbia University Medical Center, New York, NY
2 Department of Pathology, Columbia University, New York, NY
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10.1016/j.celrep.2012.05.009
10.1038/ng.2202:1‐17
10.1093/hmg/ddr073
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10.1016/j.ceb.2013.02.008
10.1016/j.cell.2010.11.055
10.1016/j.ajhg.2014.03
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Snippet What's already known about this topic? Chromothripsis is a recently described phenomenon whereby a single catastrophic event leads to multiple chromosome...
What's already known about this topic? Chromothripsis is a recently described phenomenon whereby a single catastrophic event leads to multiple chromosome...
What's already known about this topic? * Chromothripsis is a recently described phenomenon whereby a single catastrophic event leads to multiple chromosome...
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SubjectTerms Abnormalities, Multiple - diagnosis
Abnormalities, Multiple - genetics
Adult
Chromosome Disorders - diagnosis
Chromosome Disorders - genetics
DNA repair
Female
Genome
Genomes
Humans
In Situ Hybridization, Fluorescence
Karyotyping
Oligonucleotide Array Sequence Analysis
Pregnancy
Prenatal Diagnosis
Sequence Analysis, DNA
Translocation, Genetic
Title Prenatal diagnosis of chromothripsis, with nine breaks characterized by karyotyping, FISH, microarray and whole-genome sequencing
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