Distal 2q duplication in a patient with intellectual disability

We report on a patient with a distal 16.4-Mb duplication at 2q36.3-qter, who presented with severe intellectual disability, microcephaly, brachycephaly, prominent forehead, hypertelorism, prominent eyes, thin upper lip, and progenia. Copy number analysis using whole exome data detected a distal 2q d...

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Autores principales: Suzuki, Toshifumi, Osaka, Hitoshi, Miyake, Noriko, Fujita, Atsushi, Uchiyama, Yuri, Seyama, Rie, Koshimizu, Eriko, Miyatake, Satoko, Mizuguchi, Takeshi, Takeda, Satoru, Matsumoto, Naomichi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9649592/
https://www.ncbi.nlm.nih.gov/pubmed/36357380
http://dx.doi.org/10.1038/s41439-022-00215-8
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author Suzuki, Toshifumi
Osaka, Hitoshi
Miyake, Noriko
Fujita, Atsushi
Uchiyama, Yuri
Seyama, Rie
Koshimizu, Eriko
Miyatake, Satoko
Mizuguchi, Takeshi
Takeda, Satoru
Matsumoto, Naomichi
author_facet Suzuki, Toshifumi
Osaka, Hitoshi
Miyake, Noriko
Fujita, Atsushi
Uchiyama, Yuri
Seyama, Rie
Koshimizu, Eriko
Miyatake, Satoko
Mizuguchi, Takeshi
Takeda, Satoru
Matsumoto, Naomichi
author_sort Suzuki, Toshifumi
collection PubMed
description We report on a patient with a distal 16.4-Mb duplication at 2q36.3-qter, who presented with severe intellectual disability, microcephaly, brachycephaly, prominent forehead, hypertelorism, prominent eyes, thin upper lip, and progenia. Copy number analysis using whole exome data detected a distal 2q duplication. This is the first report describing a distal 2q duplication at the molecular level.
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spelling pubmed-96495922022-11-15 Distal 2q duplication in a patient with intellectual disability Suzuki, Toshifumi Osaka, Hitoshi Miyake, Noriko Fujita, Atsushi Uchiyama, Yuri Seyama, Rie Koshimizu, Eriko Miyatake, Satoko Mizuguchi, Takeshi Takeda, Satoru Matsumoto, Naomichi Hum Genome Var Data Report We report on a patient with a distal 16.4-Mb duplication at 2q36.3-qter, who presented with severe intellectual disability, microcephaly, brachycephaly, prominent forehead, hypertelorism, prominent eyes, thin upper lip, and progenia. Copy number analysis using whole exome data detected a distal 2q duplication. This is the first report describing a distal 2q duplication at the molecular level. Nature Publishing Group UK 2022-11-10 /pmc/articles/PMC9649592/ /pubmed/36357380 http://dx.doi.org/10.1038/s41439-022-00215-8 Text en © The Author(s) 2022 https://creativecommons.org/licenses/by/4.0/Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) .
spellingShingle Data Report
Suzuki, Toshifumi
Osaka, Hitoshi
Miyake, Noriko
Fujita, Atsushi
Uchiyama, Yuri
Seyama, Rie
Koshimizu, Eriko
Miyatake, Satoko
Mizuguchi, Takeshi
Takeda, Satoru
Matsumoto, Naomichi
Distal 2q duplication in a patient with intellectual disability
title Distal 2q duplication in a patient with intellectual disability
title_full Distal 2q duplication in a patient with intellectual disability
title_fullStr Distal 2q duplication in a patient with intellectual disability
title_full_unstemmed Distal 2q duplication in a patient with intellectual disability
title_short Distal 2q duplication in a patient with intellectual disability
title_sort distal 2q duplication in a patient with intellectual disability
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9649592/
https://www.ncbi.nlm.nih.gov/pubmed/36357380
http://dx.doi.org/10.1038/s41439-022-00215-8
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