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

Jesus David Sendoya Vargas; Divya Periasamy; Frank Barreiro Sanchez; Maria Alejandra Benavides Fierro; Ingrid Carolina Duran Palacios; Richard Sidlow; Henry Ostos Alfonso

doi:doi:10.11648/j.ijgg.20180601.14

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

Jesus David Sendoya Vargas, Divya Periasamy, Frank Barreiro Sanchez, Maria Alejandra Benavides Fierro, Ingrid Carolina Duran Palacios, Richard Sidlow, Henry Ostos Alfonso

Published in International Journal of Genetics and Genomics (Volume 6, Issue 1)

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), 2024. Published by Science Publishing Group

Keywords

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

References

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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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TY  - JOUR
T1  - A Small Pure 3q25.1 Duplication Associated with Multiple Cerebral Organizational Defects
AU  - Jesus David Sendoya Vargas
AU  - Divya Periasamy
AU  - Frank Barreiro Sanchez
AU  - Maria Alejandra Benavides Fierro
AU  - Ingrid Carolina Duran Palacios
AU  - Richard Sidlow
AU  - Henry Ostos Alfonso
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DO  - 10.11648/j.ijgg.20180601.14
T2  - International Journal of Genetics and Genomics
JF  - International Journal of Genetics and Genomics
JO  - International Journal of Genetics and Genomics
SP  - 18
EP  - 21
PB  - Science Publishing Group
SN  - 2376-7359
UR  - https://doi.org/10.11648/j.ijgg.20180601.14
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
IS  - 1
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Author Information

Jesus David Sendoya Vargas

Genomic Medicine Laboratory, Universidad Surcolombiana, Neiva, Colombia
Divya Periasamy

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

Genomic Medicine Laboratory, Universidad Surcolombiana, Neiva, Colombia
Maria Alejandra Benavides Fierro

Department of Pediatric Neurology, Universidad Surcolombiana, Neiva, Colombia
Ingrid Carolina Duran Palacios

Department of Radiology, Universidad Surcolombiana, Neiva, Colombia
Richard Sidlow

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

Genomic Medicine Laboratory, Universidad Surcolombiana, Neiva, Colombia

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Plain Text BibTeX RIS

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

Copy | Download

@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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TY  - JOUR
T1  - A Small Pure 3q25.1 Duplication Associated with Multiple Cerebral Organizational Defects
AU  - Jesus David Sendoya Vargas
AU  - Divya Periasamy
AU  - Frank Barreiro Sanchez
AU  - Maria Alejandra Benavides Fierro
AU  - Ingrid Carolina Duran Palacios
AU  - Richard Sidlow
AU  - Henry Ostos Alfonso
Y1  - 2018/05/05
PY  - 2018
N1  - https://doi.org/10.11648/j.ijgg.20180601.14
DO  - 10.11648/j.ijgg.20180601.14
T2  - International Journal of Genetics and Genomics
JF  - International Journal of Genetics and Genomics
JO  - International Journal of Genetics and Genomics
SP  - 18
EP  - 21
PB  - Science Publishing Group
SN  - 2376-7359
UR  - https://doi.org/10.11648/j.ijgg.20180601.14
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
IS  - 1
ER  -

Copy | Download