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A Small Pure 3q25.1 Duplication Associated with Multiple Cerebral Organizational Defects

Received: 11 March 2018     Accepted: 3 April 2018     Published: 5 May 2018
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Abstract

Duplications of the long arm of chromosome 3 most frequently occur in the context of other chromosomal copy number variations. Pure duplications of this region are exceedingly rare, varying widely in size and clinical presentation. Presented below is a case of a small pure duplication of the long arm of chromosome 3q25.1 associated with marked cerebral organization defects and the possible genotype/phenotype correlation between the two.

Published in International Journal of Genetics and Genomics (Volume 6, Issue 1)
DOI 10.11648/j.ijgg.20180601.14
Page(s) 18-21
Creative Commons

This is an Open Access article, distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution and reproduction in any medium or format, provided the original work is properly cited.

Copyright

Copyright © The Author(s), 2018. Published by Science Publishing Group

Keywords

3q25.1, Pure Duplication, Copy Number Variant, Schizencephaly

References
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Cite This Article
  • APA Style

    Jesus David Sendoya Vargas, Divya Periasamy, Frank Barreiro Sanchez, Maria Alejandra Benavides Fierro, Ingrid Carolina Duran Palacios, et al. (2018). A Small Pure 3q25.1 Duplication Associated with Multiple Cerebral Organizational Defects. International Journal of Genetics and Genomics, 6(1), 18-21. https://doi.org/10.11648/j.ijgg.20180601.14

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    ACS Style

    Jesus David Sendoya Vargas; Divya Periasamy; Frank Barreiro Sanchez; Maria Alejandra Benavides Fierro; Ingrid Carolina Duran Palacios, et al. A Small Pure 3q25.1 Duplication Associated with Multiple Cerebral Organizational Defects. Int. J. Genet. Genomics 2018, 6(1), 18-21. doi: 10.11648/j.ijgg.20180601.14

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    AMA Style

    Jesus David Sendoya Vargas, Divya Periasamy, Frank Barreiro Sanchez, Maria Alejandra Benavides Fierro, Ingrid Carolina Duran Palacios, et al. A Small Pure 3q25.1 Duplication Associated with Multiple Cerebral Organizational Defects. Int J Genet Genomics. 2018;6(1):18-21. doi: 10.11648/j.ijgg.20180601.14

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  • @article{10.11648/j.ijgg.20180601.14,
      author = {Jesus David Sendoya Vargas and Divya Periasamy and Frank Barreiro Sanchez and Maria Alejandra Benavides Fierro and Ingrid Carolina Duran Palacios and Richard Sidlow and Henry Ostos Alfonso},
      title = {A Small Pure 3q25.1 Duplication Associated with Multiple Cerebral Organizational Defects},
      journal = {International Journal of Genetics and Genomics},
      volume = {6},
      number = {1},
      pages = {18-21},
      doi = {10.11648/j.ijgg.20180601.14},
      url = {https://doi.org/10.11648/j.ijgg.20180601.14},
      eprint = {https://article.sciencepublishinggroup.com/pdf/10.11648.j.ijgg.20180601.14},
      abstract = {Duplications of the long arm of chromosome 3 most frequently occur in the context of other chromosomal copy number variations. Pure duplications of this region are exceedingly rare, varying widely in size and clinical presentation. Presented below is a case of a small pure duplication of the long arm of chromosome 3q25.1 associated with marked cerebral organization defects and the possible genotype/phenotype correlation between the two.},
     year = {2018}
    }
    

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    T1  - A Small Pure 3q25.1 Duplication Associated with Multiple Cerebral Organizational Defects
    AU  - Jesus David Sendoya Vargas
    AU  - Divya Periasamy
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    AU  - Henry Ostos Alfonso
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    AB  - Duplications of the long arm of chromosome 3 most frequently occur in the context of other chromosomal copy number variations. Pure duplications of this region are exceedingly rare, varying widely in size and clinical presentation. Presented below is a case of a small pure duplication of the long arm of chromosome 3q25.1 associated with marked cerebral organization defects and the possible genotype/phenotype correlation between the two.
    VL  - 6
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Author Information
  • Genomic Medicine Laboratory, Universidad Surcolombiana, Neiva, Colombia

  • Department of Pediatrics, Staten Island University Hospital-Northwell Health, New York, U.S.A

  • Genomic Medicine Laboratory, Universidad Surcolombiana, Neiva, Colombia

  • Department of Pediatric Neurology, Universidad Surcolombiana, Neiva, Colombia

  • Department of Radiology, Universidad Surcolombiana, Neiva, Colombia

  • Department of Pediatrics, Staten Island University Hospital-Northwell Health, New York, U.S.A

  • Genomic Medicine Laboratory, Universidad Surcolombiana, Neiva, Colombia

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