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Clinical report of a neonate carrying a large deletion in the 10p15.3p13 region and review of the literature

BACKGROUND: Terminal deletion of chromosome 10p is a rare chromosomal abnormality. We report a neonatal case with a large deletion of 10p15.3p13 diagnosed early because of severe clinical manifestations. CASE PRESENTATION: Our patient presented with specific facial features, hypoparathyroidism, sen...

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Autores principales: Shao, Qiao-Yan, Wu, Pei-Lin, Lin, Bi-Yun, Chen, Sen-Jing, Liu, Jian, Chen, Su-Qing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8164295/
https://www.ncbi.nlm.nih.gov/pubmed/34049562
http://dx.doi.org/10.1186/s13039-021-00546-1
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author Shao, Qiao-Yan
Wu, Pei-Lin
Lin, Bi-Yun
Chen, Sen-Jing
Liu, Jian
Chen, Su-Qing
author_facet Shao, Qiao-Yan
Wu, Pei-Lin
Lin, Bi-Yun
Chen, Sen-Jing
Liu, Jian
Chen, Su-Qing
author_sort Shao, Qiao-Yan
collection PubMed
description BACKGROUND: Terminal deletion of chromosome 10p is a rare chromosomal abnormality. We report a neonatal case with a large deletion of 10p15.3p13 diagnosed early because of severe clinical manifestations. CASE PRESENTATION: Our patient presented with specific facial features, hypoparathyroidism, sen sorineural deafness, renal abnormalities, and developmental retardation, and carried a 12.6 Mb deletion in the 10p15.3 p13 region. The terminal 10p deletion involved in our patient is the second largest reported terminal deletion reported to date, and includes the ZMYND11 and GATA3 genes and a partial critical region of the DiGeorge syndrome 2 gene (DGS2). CONCLUSION: On the basis of a literature review, this terminal 10p deletion in the present case is responsible for a specific contiguous gene syndrome. This rare case may help the understanding of the genotype–phenotype spectrum of terminal deletion of chromosome 10p.
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spelling pubmed-81642952021-06-01 Clinical report of a neonate carrying a large deletion in the 10p15.3p13 region and review of the literature Shao, Qiao-Yan Wu, Pei-Lin Lin, Bi-Yun Chen, Sen-Jing Liu, Jian Chen, Su-Qing Mol Cytogenet Case Report BACKGROUND: Terminal deletion of chromosome 10p is a rare chromosomal abnormality. We report a neonatal case with a large deletion of 10p15.3p13 diagnosed early because of severe clinical manifestations. CASE PRESENTATION: Our patient presented with specific facial features, hypoparathyroidism, sen sorineural deafness, renal abnormalities, and developmental retardation, and carried a 12.6 Mb deletion in the 10p15.3 p13 region. The terminal 10p deletion involved in our patient is the second largest reported terminal deletion reported to date, and includes the ZMYND11 and GATA3 genes and a partial critical region of the DiGeorge syndrome 2 gene (DGS2). CONCLUSION: On the basis of a literature review, this terminal 10p deletion in the present case is responsible for a specific contiguous gene syndrome. This rare case may help the understanding of the genotype–phenotype spectrum of terminal deletion of chromosome 10p. BioMed Central 2021-05-28 /pmc/articles/PMC8164295/ /pubmed/34049562 http://dx.doi.org/10.1186/s13039-021-00546-1 Text en © The Author(s) 2021 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
Shao, Qiao-Yan
Wu, Pei-Lin
Lin, Bi-Yun
Chen, Sen-Jing
Liu, Jian
Chen, Su-Qing
Clinical report of a neonate carrying a large deletion in the 10p15.3p13 region and review of the literature
title Clinical report of a neonate carrying a large deletion in the 10p15.3p13 region and review of the literature
title_full Clinical report of a neonate carrying a large deletion in the 10p15.3p13 region and review of the literature
title_fullStr Clinical report of a neonate carrying a large deletion in the 10p15.3p13 region and review of the literature
title_full_unstemmed Clinical report of a neonate carrying a large deletion in the 10p15.3p13 region and review of the literature
title_short Clinical report of a neonate carrying a large deletion in the 10p15.3p13 region and review of the literature
title_sort clinical report of a neonate carrying a large deletion in the 10p15.3p13 region and review of the literature
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8164295/
https://www.ncbi.nlm.nih.gov/pubmed/34049562
http://dx.doi.org/10.1186/s13039-021-00546-1
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