Endocrinopathies in a boy with cryptic copy-number variations on 4q, 7q and Xp

We report a male patient with three copy-number variations (CNVs) and unique phenotype. He carried ~11.2 Mb terminal duplication on 4q, ~13.4 Mb terminal deletion on 7q and ~1.7 Mb interstitial duplication on Xp22.31, which were identified by array-based comparative genomic hybridization. He manifes...

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Autores principales: Okuno, Misako, Ogata, Tsutomu, Nakabayashi, Kazuhiko, Urakami, Tatsuhiko, Fukami, Maki, Nagasaki, Keisuke
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/PMC4785576/
https://www.ncbi.nlm.nih.gov/pubmed/27081533
http://dx.doi.org/10.1038/hgv.2015.20
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author Okuno, Misako
Ogata, Tsutomu
Nakabayashi, Kazuhiko
Urakami, Tatsuhiko
Fukami, Maki
Nagasaki, Keisuke
author_facet Okuno, Misako
Ogata, Tsutomu
Nakabayashi, Kazuhiko
Urakami, Tatsuhiko
Fukami, Maki
Nagasaki, Keisuke
author_sort Okuno, Misako
collection PubMed
description We report a male patient with three copy-number variations (CNVs) and unique phenotype. He carried ~11.2 Mb terminal duplication on 4q, ~13.4 Mb terminal deletion on 7q and ~1.7 Mb interstitial duplication on Xp22.31, which were identified by array-based comparative genomic hybridization. He manifested mental retardation, mild brain anomalies and skeletal deformities ascribable to these CNVs, together with central precocious puberty and mild adrenocorticotropic hormone overproduction of unknown etiologies.
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spelling pubmed-47855762016-04-14 Endocrinopathies in a boy with cryptic copy-number variations on 4q, 7q and Xp Okuno, Misako Ogata, Tsutomu Nakabayashi, Kazuhiko Urakami, Tatsuhiko Fukami, Maki Nagasaki, Keisuke Hum Genome Var Data Report We report a male patient with three copy-number variations (CNVs) and unique phenotype. He carried ~11.2 Mb terminal duplication on 4q, ~13.4 Mb terminal deletion on 7q and ~1.7 Mb interstitial duplication on Xp22.31, which were identified by array-based comparative genomic hybridization. He manifested mental retardation, mild brain anomalies and skeletal deformities ascribable to these CNVs, together with central precocious puberty and mild adrenocorticotropic hormone overproduction of unknown etiologies. Nature Publishing Group 2015-07-02 /pmc/articles/PMC4785576/ /pubmed/27081533 http://dx.doi.org/10.1038/hgv.2015.20 Text en Copyright © 2015 The Japan Society of Human Genetics http://creativecommons.org/licenses/by-nc-sa/4.0/ This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 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-sa/4.0/
spellingShingle Data Report
Okuno, Misako
Ogata, Tsutomu
Nakabayashi, Kazuhiko
Urakami, Tatsuhiko
Fukami, Maki
Nagasaki, Keisuke
Endocrinopathies in a boy with cryptic copy-number variations on 4q, 7q and Xp
title Endocrinopathies in a boy with cryptic copy-number variations on 4q, 7q and Xp
title_full Endocrinopathies in a boy with cryptic copy-number variations on 4q, 7q and Xp
title_fullStr Endocrinopathies in a boy with cryptic copy-number variations on 4q, 7q and Xp
title_full_unstemmed Endocrinopathies in a boy with cryptic copy-number variations on 4q, 7q and Xp
title_short Endocrinopathies in a boy with cryptic copy-number variations on 4q, 7q and Xp
title_sort endocrinopathies in a boy with cryptic copy-number variations on 4q, 7q and xp
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785576/
https://www.ncbi.nlm.nih.gov/pubmed/27081533
http://dx.doi.org/10.1038/hgv.2015.20
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