Wisconsin syndrome with brain volume laterality: a case report and review of the literature

BACKGROUND: Wisconsin syndrome is a congenital anomaly caused by a 3q interstitial deletion. It is associated with characteristic facies and developmental delays. Only 33 cases with a deletion estimated to be in the associated region 3q25 have been reported. CASE REPORT: We present the case of a 5-y...

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Autores principales: Okano, Satomi, Makita, Yoshio, Kimura, Kayano, Fukuda, Ikue, Miyamoto, Akie, Tanaka, Hajime
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9013138/
https://www.ncbi.nlm.nih.gov/pubmed/35428363
http://dx.doi.org/10.1186/s13256-022-03332-8
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author Okano, Satomi
Makita, Yoshio
Kimura, Kayano
Fukuda, Ikue
Miyamoto, Akie
Tanaka, Hajime
author_facet Okano, Satomi
Makita, Yoshio
Kimura, Kayano
Fukuda, Ikue
Miyamoto, Akie
Tanaka, Hajime
author_sort Okano, Satomi
collection PubMed
description BACKGROUND: Wisconsin syndrome is a congenital anomaly caused by a 3q interstitial deletion. It is associated with characteristic facies and developmental delays. Only 33 cases with a deletion estimated to be in the associated region 3q25 have been reported. CASE REPORT: We present the case of a 5-year-old Japanese girl with a 3q24q25.2 deletion. Her facial features corresponded to the Wisconsin syndrome phenotype, and she exhibited brain volume laterality, which has not been reported previously. CONCLUSION: The clinical features of our case may contribute to narrowing down the list of candidate genes of Wisconsin syndrome.
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spelling pubmed-90131382022-04-17 Wisconsin syndrome with brain volume laterality: a case report and review of the literature Okano, Satomi Makita, Yoshio Kimura, Kayano Fukuda, Ikue Miyamoto, Akie Tanaka, Hajime J Med Case Rep Case Report BACKGROUND: Wisconsin syndrome is a congenital anomaly caused by a 3q interstitial deletion. It is associated with characteristic facies and developmental delays. Only 33 cases with a deletion estimated to be in the associated region 3q25 have been reported. CASE REPORT: We present the case of a 5-year-old Japanese girl with a 3q24q25.2 deletion. Her facial features corresponded to the Wisconsin syndrome phenotype, and she exhibited brain volume laterality, which has not been reported previously. CONCLUSION: The clinical features of our case may contribute to narrowing down the list of candidate genes of Wisconsin syndrome. BioMed Central 2022-04-16 /pmc/articles/PMC9013138/ /pubmed/35428363 http://dx.doi.org/10.1186/s13256-022-03332-8 Text en © The Author(s) 2022 https://creativecommons.org/licenses/by/4.0/Open AccessThis 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 licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence 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 licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/ (https://creativecommons.org/publicdomain/zero/1.0/) ) applies to the data made available in this article, unless otherwise stated in a credit line to the data.
spellingShingle Case Report
Okano, Satomi
Makita, Yoshio
Kimura, Kayano
Fukuda, Ikue
Miyamoto, Akie
Tanaka, Hajime
Wisconsin syndrome with brain volume laterality: a case report and review of the literature
title Wisconsin syndrome with brain volume laterality: a case report and review of the literature
title_full Wisconsin syndrome with brain volume laterality: a case report and review of the literature
title_fullStr Wisconsin syndrome with brain volume laterality: a case report and review of the literature
title_full_unstemmed Wisconsin syndrome with brain volume laterality: a case report and review of the literature
title_short Wisconsin syndrome with brain volume laterality: a case report and review of the literature
title_sort wisconsin syndrome with brain volume laterality: a case report and review of the literature
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9013138/
https://www.ncbi.nlm.nih.gov/pubmed/35428363
http://dx.doi.org/10.1186/s13256-022-03332-8
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