Volume 6, Issue 1, March 2018, Page: 18-21
A Small Pure 3q25.1 Duplication Associated with Multiple Cerebral Organizational Defects
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
Received: Mar. 11, 2018;       Accepted: Apr. 3, 2018;       Published: May 5, 2018
DOI: 10.11648/j.ijgg.20180601.14      View  1033      Downloads  57
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.
Keywords
3q25.1, Pure Duplication, Copy Number Variant, Schizencephaly
To cite this article
Jesus David Sendoya Vargas, Divya Periasamy, Frank Barreiro Sanchez, Maria Alejandra Benavides Fierro, Ingrid Carolina Duran Palacios, Richard Sidlow, Henry Ostos Alfonso, A Small Pure 3q25.1 Duplication Associated with Multiple Cerebral Organizational Defects, International Journal of Genetics and Genomics. Vol. 6, No. 1, 2018, pp. 18-21. doi: 10.11648/j.ijgg.20180601.14
Copyright
Copyright © 2018 Authors retain the copyright of this article.
This article is an open access article distributed under the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/) which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
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