6q21–22 deletion syndrome with interrupted aortic arch

Interstitial deletion of 6q21–22 has been previously reported in 11 individuals, who presented with intellectual disability, facial dysmorphism, cardiac abnormality, cerebellar hypoplasia and dysplasia of the corpus callosum. Here, we report the first instance of a patient with 6q21–22 deletion pres...

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Autores principales: Matsumoto, Ayumi, Nozaki, Yasuyuki, Minami, Takaomi, Jimbo, Eriko F, Shiraishi, Hirohiko, Yamagata, Takanori
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2015
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785536/
https://www.ncbi.nlm.nih.gov/pubmed/27081529
http://dx.doi.org/10.1038/hgv.2015.15
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author Matsumoto, Ayumi
Nozaki, Yasuyuki
Minami, Takaomi
Jimbo, Eriko F
Shiraishi, Hirohiko
Yamagata, Takanori
author_facet Matsumoto, Ayumi
Nozaki, Yasuyuki
Minami, Takaomi
Jimbo, Eriko F
Shiraishi, Hirohiko
Yamagata, Takanori
author_sort Matsumoto, Ayumi
collection PubMed
description Interstitial deletion of 6q21–22 has been previously reported in 11 individuals, who presented with intellectual disability, facial dysmorphism, cardiac abnormality, cerebellar hypoplasia and dysplasia of the corpus callosum. Here, we report the first instance of a patient with 6q21–22 deletion presenting with interrupted aortic arch in addition to the previously described clinical signs. Array analysis using Agilent Human genome CGH 180K identified a 13.3-Mb deletion at 6q21–q22.31 (nt. 109885195–123209593).
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spelling pubmed-47855362016-04-14 6q21–22 deletion syndrome with interrupted aortic arch Matsumoto, Ayumi Nozaki, Yasuyuki Minami, Takaomi Jimbo, Eriko F Shiraishi, Hirohiko Yamagata, Takanori Hum Genome Var Data Report Interstitial deletion of 6q21–22 has been previously reported in 11 individuals, who presented with intellectual disability, facial dysmorphism, cardiac abnormality, cerebellar hypoplasia and dysplasia of the corpus callosum. Here, we report the first instance of a patient with 6q21–22 deletion presenting with interrupted aortic arch in addition to the previously described clinical signs. Array analysis using Agilent Human genome CGH 180K identified a 13.3-Mb deletion at 6q21–q22.31 (nt. 109885195–123209593). Nature Publishing Group 2015-06-11 /pmc/articles/PMC4785536/ /pubmed/27081529 http://dx.doi.org/10.1038/hgv.2015.15 Text en Copyright © 2015 The Japan Society of Human Genetics http://creativecommons.org/licenses/by-nc-nd/4.0/ This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivs 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by-nc-nd/4.0/
spellingShingle Data Report
Matsumoto, Ayumi
Nozaki, Yasuyuki
Minami, Takaomi
Jimbo, Eriko F
Shiraishi, Hirohiko
Yamagata, Takanori
6q21–22 deletion syndrome with interrupted aortic arch
title 6q21–22 deletion syndrome with interrupted aortic arch
title_full 6q21–22 deletion syndrome with interrupted aortic arch
title_fullStr 6q21–22 deletion syndrome with interrupted aortic arch
title_full_unstemmed 6q21–22 deletion syndrome with interrupted aortic arch
title_short 6q21–22 deletion syndrome with interrupted aortic arch
title_sort 6q21–22 deletion syndrome with interrupted aortic arch
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785536/
https://www.ncbi.nlm.nih.gov/pubmed/27081529
http://dx.doi.org/10.1038/hgv.2015.15
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AT shiraishihirohiko 6q2122deletionsyndromewithinterruptedaorticarch
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