Neurological expression of an inherited translocation of chromosomal 1 and 7

An unbalanced translocation of chromosome 1 and 7 (t[1;7]) associated with neurological phenotype and brain malformation has rarely been reported. This clinical report describes 3 siblings with brain malformations and a 13.5 Mb duplication of 1q42.3q44, and a 7.6 Mb duplication of 7q36.1q36.3 detect...

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Autores principales: AlMajhad, Nabil A., AlHashem, Amal M., Bouhjar, Inesse A., Tabarki, Brahim M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Riyadh : Armed Forces Hospital 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5726840/
https://www.ncbi.nlm.nih.gov/pubmed/28064333
http://dx.doi.org/10.17712/nsj.2017.1.20160436
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author AlMajhad, Nabil A.
AlHashem, Amal M.
Bouhjar, Inesse A.
Tabarki, Brahim M.
author_facet AlMajhad, Nabil A.
AlHashem, Amal M.
Bouhjar, Inesse A.
Tabarki, Brahim M.
author_sort AlMajhad, Nabil A.
collection PubMed
description An unbalanced translocation of chromosome 1 and 7 (t[1;7]) associated with neurological phenotype and brain malformation has rarely been reported. This clinical report describes 3 siblings with brain malformations and a 13.5 Mb duplication of 1q42.3q44, and a 7.6 Mb duplication of 7q36.1q36.3 detected by array comparative genomic hybridization. This unbalanced t(1;7) was found to be inherited from a balanced translocation from the mother. All the patients presented with hypotonia, microcephaly, developmental delay, seizures, abnormal corpus callosum and abnormal cerebellum.
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spelling pubmed-57268402017-12-18 Neurological expression of an inherited translocation of chromosomal 1 and 7 AlMajhad, Nabil A. AlHashem, Amal M. Bouhjar, Inesse A. Tabarki, Brahim M. Neurosciences (Riyadh) Case Report An unbalanced translocation of chromosome 1 and 7 (t[1;7]) associated with neurological phenotype and brain malformation has rarely been reported. This clinical report describes 3 siblings with brain malformations and a 13.5 Mb duplication of 1q42.3q44, and a 7.6 Mb duplication of 7q36.1q36.3 detected by array comparative genomic hybridization. This unbalanced t(1;7) was found to be inherited from a balanced translocation from the mother. All the patients presented with hypotonia, microcephaly, developmental delay, seizures, abnormal corpus callosum and abnormal cerebellum. Riyadh : Armed Forces Hospital 2017-01 /pmc/articles/PMC5726840/ /pubmed/28064333 http://dx.doi.org/10.17712/nsj.2017.1.20160436 Text en Copyright: © Neurosciences http://creativecommons.org/licenses/by/3.0/ Neurosciences is an Open Access journal and articles published are distributed under the terms of the Creative Commons Attribution-NonCommercial License (CC BY-NC). Readers may copy, distribute, and display the work for non-commercial purposes with the proper citation of the original work.
spellingShingle Case Report
AlMajhad, Nabil A.
AlHashem, Amal M.
Bouhjar, Inesse A.
Tabarki, Brahim M.
Neurological expression of an inherited translocation of chromosomal 1 and 7
title Neurological expression of an inherited translocation of chromosomal 1 and 7
title_full Neurological expression of an inherited translocation of chromosomal 1 and 7
title_fullStr Neurological expression of an inherited translocation of chromosomal 1 and 7
title_full_unstemmed Neurological expression of an inherited translocation of chromosomal 1 and 7
title_short Neurological expression of an inherited translocation of chromosomal 1 and 7
title_sort neurological expression of an inherited translocation of chromosomal 1 and 7
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5726840/
https://www.ncbi.nlm.nih.gov/pubmed/28064333
http://dx.doi.org/10.17712/nsj.2017.1.20160436
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