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West syndrome associated with a novel chromosomal anomaly; partial trisomy 8P together with partial monosomy 9P, resulting from a familial unbalanced reciprocal translocation

West syndrome is classified according to the underlying etiology into an acquired West syndrome, a congenital/developmental West syndrome, and West syndrome of unknown etiology. Causes of a congenital/developmental West syndrome are extensive and include chromosomal anomalies. We report on a patient...

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Autores principales: Erol, Ilknur, Saygı, Semra, Demir, Şenay, Alehan, Fusun, Sahin, Feride Iffet
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4395939/
https://www.ncbi.nlm.nih.gov/pubmed/25878738
http://dx.doi.org/10.4103/1817-1745.154324
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author Erol, Ilknur
Saygı, Semra
Demir, Şenay
Alehan, Fusun
Sahin, Feride Iffet
author_facet Erol, Ilknur
Saygı, Semra
Demir, Şenay
Alehan, Fusun
Sahin, Feride Iffet
author_sort Erol, Ilknur
collection PubMed
description West syndrome is classified according to the underlying etiology into an acquired West syndrome, a congenital/developmental West syndrome, and West syndrome of unknown etiology. Causes of a congenital/developmental West syndrome are extensive and include chromosomal anomalies. We report on a patient carrying a derivative chromosome originating from the reciprocal unbalanced translocation t (8;9) (p11.2;p22) and presenting with macrocephaly, West syndrome, severe mental motor retardation and hypotonia. As far as we know, this is a new chromosomal anomaly associated with West syndrome.
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spelling pubmed-43959392015-04-15 West syndrome associated with a novel chromosomal anomaly; partial trisomy 8P together with partial monosomy 9P, resulting from a familial unbalanced reciprocal translocation Erol, Ilknur Saygı, Semra Demir, Şenay Alehan, Fusun Sahin, Feride Iffet J Pediatr Neurosci Case Report West syndrome is classified according to the underlying etiology into an acquired West syndrome, a congenital/developmental West syndrome, and West syndrome of unknown etiology. Causes of a congenital/developmental West syndrome are extensive and include chromosomal anomalies. We report on a patient carrying a derivative chromosome originating from the reciprocal unbalanced translocation t (8;9) (p11.2;p22) and presenting with macrocephaly, West syndrome, severe mental motor retardation and hypotonia. As far as we know, this is a new chromosomal anomaly associated with West syndrome. Medknow Publications & Media Pvt Ltd 2015 /pmc/articles/PMC4395939/ /pubmed/25878738 http://dx.doi.org/10.4103/1817-1745.154324 Text en Copyright: © Journal of Pediatric Neurosciences http://creativecommons.org/licenses/by-nc-sa/3.0 This is an open-access article distributed under the terms of the Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Erol, Ilknur
Saygı, Semra
Demir, Şenay
Alehan, Fusun
Sahin, Feride Iffet
West syndrome associated with a novel chromosomal anomaly; partial trisomy 8P together with partial monosomy 9P, resulting from a familial unbalanced reciprocal translocation
title West syndrome associated with a novel chromosomal anomaly; partial trisomy 8P together with partial monosomy 9P, resulting from a familial unbalanced reciprocal translocation
title_full West syndrome associated with a novel chromosomal anomaly; partial trisomy 8P together with partial monosomy 9P, resulting from a familial unbalanced reciprocal translocation
title_fullStr West syndrome associated with a novel chromosomal anomaly; partial trisomy 8P together with partial monosomy 9P, resulting from a familial unbalanced reciprocal translocation
title_full_unstemmed West syndrome associated with a novel chromosomal anomaly; partial trisomy 8P together with partial monosomy 9P, resulting from a familial unbalanced reciprocal translocation
title_short West syndrome associated with a novel chromosomal anomaly; partial trisomy 8P together with partial monosomy 9P, resulting from a familial unbalanced reciprocal translocation
title_sort west syndrome associated with a novel chromosomal anomaly; partial trisomy 8p together with partial monosomy 9p, resulting from a familial unbalanced reciprocal translocation
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4395939/
https://www.ncbi.nlm.nih.gov/pubmed/25878738
http://dx.doi.org/10.4103/1817-1745.154324
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