Clinical course of a Japanese patient with developmental delay linked to a small 6q16.1 deletion

There is only one report of patients with developmental delay due to a 6q16.1 deletion that does not contain the SIM1 gene. A 3-year-old female showed strabismus, cleft soft palate, hypotonia at birth, and global developmental delay. Exome sequencing detected a de novo 6q16.1 deletion (chr6: 9928271...

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Autores principales: Okazaki, Tetsuya, Kawaguchi, Tatsuya, Saiki, Yusuke, Aoki, Chisako, Kasagi, Noriko, Adachi, Kaori, Saida, Ken, Matsumoto, Naomichi, Nanba, Eiji, Maegaki, Yoshihiro
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/PMC9114330/
https://www.ncbi.nlm.nih.gov/pubmed/35581197
http://dx.doi.org/10.1038/s41439-022-00194-w
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author Okazaki, Tetsuya
Kawaguchi, Tatsuya
Saiki, Yusuke
Aoki, Chisako
Kasagi, Noriko
Adachi, Kaori
Saida, Ken
Matsumoto, Naomichi
Nanba, Eiji
Maegaki, Yoshihiro
author_facet Okazaki, Tetsuya
Kawaguchi, Tatsuya
Saiki, Yusuke
Aoki, Chisako
Kasagi, Noriko
Adachi, Kaori
Saida, Ken
Matsumoto, Naomichi
Nanba, Eiji
Maegaki, Yoshihiro
author_sort Okazaki, Tetsuya
collection PubMed
description There is only one report of patients with developmental delay due to a 6q16.1 deletion that does not contain the SIM1 gene. A 3-year-old female showed strabismus, cleft soft palate, hypotonia at birth, and global developmental delay. Exome sequencing detected a de novo 6q16.1 deletion (chr6: 99282717–100062596) (hg19). The following genes were included in this region: POU3F2, FBXL4, FAXC, COQ3, PNISR, USP45, TSTD3, CCNC, and PRDM13.
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spelling pubmed-91143302022-05-19 Clinical course of a Japanese patient with developmental delay linked to a small 6q16.1 deletion Okazaki, Tetsuya Kawaguchi, Tatsuya Saiki, Yusuke Aoki, Chisako Kasagi, Noriko Adachi, Kaori Saida, Ken Matsumoto, Naomichi Nanba, Eiji Maegaki, Yoshihiro Hum Genome Var Data Report There is only one report of patients with developmental delay due to a 6q16.1 deletion that does not contain the SIM1 gene. A 3-year-old female showed strabismus, cleft soft palate, hypotonia at birth, and global developmental delay. Exome sequencing detected a de novo 6q16.1 deletion (chr6: 99282717–100062596) (hg19). The following genes were included in this region: POU3F2, FBXL4, FAXC, COQ3, PNISR, USP45, TSTD3, CCNC, and PRDM13. Nature Publishing Group UK 2022-05-17 /pmc/articles/PMC9114330/ /pubmed/35581197 http://dx.doi.org/10.1038/s41439-022-00194-w 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
Okazaki, Tetsuya
Kawaguchi, Tatsuya
Saiki, Yusuke
Aoki, Chisako
Kasagi, Noriko
Adachi, Kaori
Saida, Ken
Matsumoto, Naomichi
Nanba, Eiji
Maegaki, Yoshihiro
Clinical course of a Japanese patient with developmental delay linked to a small 6q16.1 deletion
title Clinical course of a Japanese patient with developmental delay linked to a small 6q16.1 deletion
title_full Clinical course of a Japanese patient with developmental delay linked to a small 6q16.1 deletion
title_fullStr Clinical course of a Japanese patient with developmental delay linked to a small 6q16.1 deletion
title_full_unstemmed Clinical course of a Japanese patient with developmental delay linked to a small 6q16.1 deletion
title_short Clinical course of a Japanese patient with developmental delay linked to a small 6q16.1 deletion
title_sort clinical course of a japanese patient with developmental delay linked to a small 6q16.1 deletion
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9114330/
https://www.ncbi.nlm.nih.gov/pubmed/35581197
http://dx.doi.org/10.1038/s41439-022-00194-w
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