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), 2018. Published by Science Publishing Group

Keywords

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

References

[1]	Aqua MS, Rizzu P, Lindsay EA, Shaffer LG, Zackai EH, Overhauser J, Maldini A. Duplication 3q syndrome: Molecular delineation of the critical region. Am J Med Genet 1995; 55:33-7.
[2]	Rizzu P, Haddad BR, Vallcorba I, Alonso A, Ferro MT, Garcia-Sagredo JM, Baldini A. Delineation of a duplication map of chromosome 3q: A new case confirms the exclusion of 3q25-q26.2 from the duplication 3q syndrome critical region. Am J Med Genet 1997; 68:428-32.
[3]	Stengel-Rutkowski S, Murken JD, Pilar V, Dutrillaux B, Rodewald A, Goebel R, Bassermann R. New chromosomal dysmorphic syndromes. 3. Partial trisomy 3q. Eur J Pediatr 1979; 130:111-25.
[4]	Wilson GN, Dasouki M, Barr M Jr. Further delineation of the dup (3q) syndrome. Am J Med Genet 1985; 22:117-23.
[5]	Madan K and Menko FH. Intrachromosomal insertions: a case report and a review. Hum Genet 1992; 89:1-9.
[6]	Izumi K, Yamashita Y, Aramaki M, Kosaki R, Hosokai N, Takahashi T, Kosaki K. Neocentromere marker chromosome of distal 3q mimicking dup (3q) syndrome phenotype. Am. J. Med. Genet Part A 2008; 146A:1967–71.
[7]	Murthy SK, Malhotra AK, Jacob PS, Naveed S, Al-Rowaished EE, Mani S, Padariyakam S, Pramathan R, Nath R, Al-Ali MT, Al-Gazali L. Analphoid supernumerary marker chromosome characterized by aCGH and FISH as inv dup (3) (q25.33qter) de novo in a child with dysmorphic features and streaky pigmentation: case report. Mol Cytogenet 2008; 1:19.
[8]	Wu Y, Ji T, Wang J, Xiao J, Wang H, Li J, Gao Z, Yang Y, Cai B, Wang L, Zhou Z, Tian L, Wang X, Zhong J, Wu X, Jiang Y. Submicroscopic subtelomeric aberrations in Chinese patients with unexplained developmental delay/mental retardation. BMC Med Genet 2010; 11:72.
[9]	Shanske AL, Leonard J, Nahum O, Coppock DL, Levy B. Delineation of the breakpoints of pure duplication 3q due to a de novo duplication event using SOMA. Am J Med Genet Part A 2010; 152A:3185-88.
[10]	ECARUCA-agserver01.azn.nl:8080/ecaruca/ecaruca.jsp. (accessed December 2017).
[11]	Firth HV, Richards SM, Bevan AP, Clayton S, Corpas M, Rajan D, Van Vooren S, Moreau Y, Pettett RM, Carter NP. DECIPHER: Database of chromosomal imbalance and phenotype in humans using Ensembl resources. Am J Hum Genet 2009; 84:524-33. (accessed December 2017).
[12]	Chiyo H, Kuroki Y, Matsui I, Niitsu N, Nakagome Y. A case of partial trisomy 3q. J Med Genet 1976; 13:525–28.
[13]	Blumberg B, Moore R, Mohandas T. Partial 3q trisomy due to an unbalanced 3/10 translocation. Am J Med Genet 1980; 7:335-9.
[14]	Steinbach P, Adkins Jr. WN, Caspar H, Dumars KW, Gebauer J, Gilbert EF, Grimm T, Habedank M, Hansmann I, Herrmann J, Kaveggia EG, Langenbeck U, Meisner LF, Najafzadeh TM, Opitz JM, Palmer CG, Peters HH, Scholz W, Tavares AS, Weideking C. The Dup (3q) syndrome: Report of eight cases and review of the literature. Am J Med Genet 1981; 10:159-77.
[15]	Gimelli G, Giorda R, Beri S, Gimelli S, Zuffardi O. A large analphoid invdup (3) (q22.2qter) marker chromosome characterized by array-CGH in a child with malformations, mental retardation, ambiguous genitalia and Blaschko’s lines. Eur J Med Genet 2007; 50:264-73.
[16]	Grossmann V, Muller D, Muller W, Fresser F, Erdel M, Janecke AR, Zschocke J, Utermann G, Kotzot D. “Essentially” pure trisomy 3q27—qter: Further delineation of the partial trisomy 3q phenotype. Am J Med Genet Part A 2009; 149A:2522-26.
[17]	Meins M, Hagh JK, Gerresheim F, Einhoff E, Olschewski H, Strehl H, Epplen JT. Novel case of dup (3q) syndrome due to a de novo interstitial duplication 3q24-q26.31 with minimal overlap to the dup (3q) critical region. Am J Med Genet Part A 2004; 132A:84-9.
[18]	de Azevedo Moreira LM, Neri FB, de Quadros Uzeda S, de Carvalho AF, Santana GC, Souza FR, Rollemberg JC. Multiple congenital malformations includeing severe eye anomalies and abnormal cerebellar development with Dandy-Walker malformation in a girl with partial trisomy 3q. Ophthalmic Genet 2005; 26:37-43.
[19]	Van Essen AJ, Kok K, van den Berg A, de Jong B, Stellink F, Bos AF, Scheffer H, Buys CHCM. Partial 3q duplication syndrome and assignment of D3S5 to 3q25-3q28. Hum Genet 1991; 87:151-4.
[20]	Sciorra, LJ, Bahng K, Lee M. Trisomy in the distal end of the long arm of chromosome 3. Am J Dis Child 1979; 133:727-30.
[21]	Wilson GN, Hieber VC, Schmickel RD. The association of chromosome 3 duplication and the Cornelia de Lange syndrome. J Pediatr 1978; 93:783-8.
[22]	Jansen A and Andermann E. Genetics of the polymicrogyria syndromes. J Med Genet 2005; 42:369-378.
[23]	Bae BI, Tietjen I, Atabay KD, Evrony GD, Johnson MB, Asare E, Wang PP, Murayama AY, Im K, Lisgo SN, Overman L, Šestan N, Chang BS, Barkovich AJ, Grant PE, Topçu M, Politsky J, Okano H, Piao X, Walsh CA. Evolutionarily dynamic alternative splicing of GPR56 regulates regional cerebral cortical patterning. Science 2014; 343:764-8.
[24]	Scheiffele P, Fan J, Choih J, Fetter R, Serafini T. Neuroligin expressed in nonneuronal cells triggers presynaptic development in contacting axons. Cell 2000; 101:657-69.
[25]	Reiter LT, Seagroves TN, Bowers M, Bier E. Expression of the Rho-GEF Pbl/ECT2 is regulated by the UBE3A E3 ubiquitin ligase. Hum Mol Genet 2006; 15:2825-35.

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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