Cargando…
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...
Autores principales: | , , , , |
---|---|
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 |
_version_ | 1782366515802144768 |
---|---|
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. |
format | Online Article Text |
id | pubmed-4395939 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2015 |
publisher | Medknow Publications & Media Pvt Ltd |
record_format | MEDLINE/PubMed |
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 |
work_keys_str_mv | AT erolilknur westsyndromeassociatedwithanovelchromosomalanomalypartialtrisomy8ptogetherwithpartialmonosomy9presultingfromafamilialunbalancedreciprocaltranslocation AT saygısemra westsyndromeassociatedwithanovelchromosomalanomalypartialtrisomy8ptogetherwithpartialmonosomy9presultingfromafamilialunbalancedreciprocaltranslocation AT demirsenay westsyndromeassociatedwithanovelchromosomalanomalypartialtrisomy8ptogetherwithpartialmonosomy9presultingfromafamilialunbalancedreciprocaltranslocation AT alehanfusun westsyndromeassociatedwithanovelchromosomalanomalypartialtrisomy8ptogetherwithpartialmonosomy9presultingfromafamilialunbalancedreciprocaltranslocation AT sahinferideiffet westsyndromeassociatedwithanovelchromosomalanomalypartialtrisomy8ptogetherwithpartialmonosomy9presultingfromafamilialunbalancedreciprocaltranslocation |