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 |
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Main Authors: | , , , , , , , , , , , , , |
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Language: | English |
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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. |
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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 |
AuthorAffiliation_xml | – name: 4 Center for Human Genetic Research and Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA – name: 6 Department of Pathology, Brigham and Women’s Hospital, Harvard Medical School, Boston, MA – name: 5 Department of Obstetrics, Gynecology and Reproductive Biology, Brigham and Women’s Hospital, Harvard Medical School, Boston, MA – name: 1 New York-Presbyterian Hospital, Columbia University Medical Center, New York, NY – name: 2 Department of Pathology, Columbia University, New York, NY – name: 3 Departments of Genetics and Development and Pediatrics, Columbia University, New York, NY |
Author_xml | – sequence: 1 givenname: M. J. surname: Macera fullname: Macera, M. J. organization: New York Presbyterian Hospital, Columbia University Medical Center, NY, New York, USA – sequence: 2 givenname: A. surname: Sobrino fullname: Sobrino, A. organization: New York Presbyterian Hospital, Columbia University Medical Center, NY, New York, USA – sequence: 3 givenname: B. surname: Levy fullname: Levy, B. organization: Department of Pathology, Columbia University, NY, New York, USA – sequence: 4 givenname: V. surname: Jobanputra fullname: Jobanputra, V. organization: Department of Pathology, Columbia University, NY, New York, USA – sequence: 5 givenname: V. surname: Aggarwal fullname: Aggarwal, V. organization: Department of Pathology, Columbia University, NY, New York, USA – sequence: 6 givenname: A. surname: Mills fullname: Mills, A. organization: New York Presbyterian Hospital, Columbia University Medical Center, NY, New York, USA – sequence: 7 givenname: C. surname: Esteves fullname: Esteves, C. organization: New York Presbyterian Hospital, Columbia University Medical Center, NY, New York, USA – sequence: 8 givenname: C. surname: Hanscom fullname: Hanscom, C. organization: Center for Human Genetic Research and Department of Neurology, Massachusetts General Hospital and Harvard Medical School, MA, Boston, USA – sequence: 9 givenname: S. surname: Pereira fullname: Pereira, S. organization: Departments of Obstetrics, Gynecology and Reproductive Biology, Harvard Medical School, MA, Boston, USA – sequence: 10 givenname: V. surname: Pillalamarri fullname: Pillalamarri, V. organization: Center for Human Genetic Research and Department of Neurology, Massachusetts General Hospital and Harvard Medical School, MA, Boston, USA – sequence: 11 givenname: Z. surname: Ordulu fullname: Ordulu, Z. organization: Departments of Obstetrics, Gynecology and Reproductive Biology, Harvard Medical School, Boston, MA, USA – sequence: 12 givenname: C. C. surname: Morton fullname: Morton, C. C. organization: Departments of Obstetrics, Gynecology and Reproductive Biology, Harvard Medical School, Boston, MA, USA – sequence: 13 givenname: M. surname: Talkowski fullname: Talkowski, M. organization: Center for Human Genetic Research and Department of Neurology, Massachusetts General Hospital and Harvard Medical School, MA, Boston, USA – sequence: 14 givenname: D. surname: Warburton fullname: Warburton, D. email: dw9@cumc.columbia.edu organization: Departments of Genetics and Development and Pediatrics, Columbia University, NY, New York, USA |
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Cites_doi | 10.1002/pd.2215 10.1016/j.celrep.2012.05.009 10.1038/ng.2202:1‐17 10.1093/hmg/ddr073 10.1093/humrep/deu003 10.1016/j.ceb.2013.02.008 10.1016/j.cell.2010.11.055 10.1016/j.ajhg.2014.03 |
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Notes | ark:/67375/WNG-PQ7M847N-T istex:31DA90C73DCF6CB6B819862ACEDB7E3216EE8AA3 ArticleID:PD4456 Conflicts of interest: None declared Funding source: NIH (R00MH095867, P01GM061354), the March of Dimes and the Charles Hood Foundation ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23 |
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References_xml | – volume: 29 start-page: 257 year: 2009 end-page: 65 article-title: balanced chromosome rearrangements in prenatal diagnosis publication-title: Prenat Diagn – volume: 1 start-page: 648 year: 2012 end-page: 55 article-title: Constitutional chromothripsis rearrangements involve clustered double‐stranded DNA breaks and nonhomologous repair mechanisms publication-title: Cell Rep – volume: 44 start-page: 390 year: 2012 end-page: 7 article-title: Complex reorganization and predominant non‐homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration publication-title: Nat Genet – volume: 20 start-page: 1916 year: 2011 end-page: 24 article-title: Chromothripsis as a mechanism driving complex de novo structural rearrangements in the germline publication-title: Hum Mol Genet – volume: 144 start-page: 27 year: 2011 end-page: 40 article-title: Massive genomic rearrangement acquired in a single catastrophic event during cancer development publication-title: Cell – volume: 25 start-page: 341 year: 2012 end-page: 8 article-title: Chromothripsis in congenital disorders and cancer: similarities and differences publication-title: Curr Opin Cell Biol – volume: 94 start-page: 695 year: 2014 end-page: 709 article-title: Describing sequencing results of structural chromosome rearrangements with a suggested next‐generation cytogenetic nomenclature publication-title: Am J Hum Genet – volume: 29 start-page: 388 year: 2014 end-page: 93 article-title: Chromothripsis: how does such a catastrophic event impact human reproduction? publication-title: Hum Reprod – ident: e_1_2_2_2_1 doi: 10.1002/pd.2215 – ident: e_1_2_2_6_1 doi: 10.1016/j.celrep.2012.05.009 – ident: e_1_2_2_3_1 doi: 10.1038/ng.2202:1‐17 – ident: e_1_2_2_5_1 doi: 10.1093/hmg/ddr073 – ident: e_1_2_2_8_1 doi: 10.1093/humrep/deu003 – ident: e_1_2_2_7_1 doi: 10.1016/j.ceb.2013.02.008 – ident: e_1_2_2_4_1 doi: 10.1016/j.cell.2010.11.055 – ident: e_1_2_2_9_1 doi: 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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