8p23.1 duplication syndrome: narrowing of critical interval to 1.80 Mbp

BACKGROUND: A 3.68 Mbp duplication of 8p23.1 defines the 8p23.1 duplication syndrome. The main features of this syndrome are developmental delay and/or learning problems. RESULTS: Here we present a patient with a 1.80 Mbp duplication in 8p23.1 and characteristic signs and symptoms of the syndrome, i...

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Autores principales: Weber, Axel, Köhler, Angelika, Hahn, Andreas, Müller, Ulrich
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4268894/
https://www.ncbi.nlm.nih.gov/pubmed/25520754
http://dx.doi.org/10.1186/s13039-014-0094-3
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author Weber, Axel
Köhler, Angelika
Hahn, Andreas
Müller, Ulrich
author_facet Weber, Axel
Köhler, Angelika
Hahn, Andreas
Müller, Ulrich
author_sort Weber, Axel
collection PubMed
description BACKGROUND: A 3.68 Mbp duplication of 8p23.1 defines the 8p23.1 duplication syndrome. The main features of this syndrome are developmental delay and/or learning problems. RESULTS: Here we present a patient with a 1.80 Mbp duplication in 8p23.1 and characteristic signs and symptoms of the syndrome, including delay of motor and speech development and intellectual disability. DISCUSSION: The case indicates that genes within this interval, in particular dosage sensitive genes SOX7 and TNKS1, and possibly MIR124-1 and MIR598 as well suffice to cause the pathognomonic features of the 8p23.1 duplication syndrome. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (doi:10.1186/s13039-014-0094-3) contains supplementary material, which is available to authorized users.
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spelling pubmed-42688942014-12-18 8p23.1 duplication syndrome: narrowing of critical interval to 1.80 Mbp Weber, Axel Köhler, Angelika Hahn, Andreas Müller, Ulrich Mol Cytogenet Case Report BACKGROUND: A 3.68 Mbp duplication of 8p23.1 defines the 8p23.1 duplication syndrome. The main features of this syndrome are developmental delay and/or learning problems. RESULTS: Here we present a patient with a 1.80 Mbp duplication in 8p23.1 and characteristic signs and symptoms of the syndrome, including delay of motor and speech development and intellectual disability. DISCUSSION: The case indicates that genes within this interval, in particular dosage sensitive genes SOX7 and TNKS1, and possibly MIR124-1 and MIR598 as well suffice to cause the pathognomonic features of the 8p23.1 duplication syndrome. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (doi:10.1186/s13039-014-0094-3) contains supplementary material, which is available to authorized users. BioMed Central 2014-12-09 /pmc/articles/PMC4268894/ /pubmed/25520754 http://dx.doi.org/10.1186/s13039-014-0094-3 Text en © Weber et al.; licensee BioMed Central Ltd. 2014 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Case Report
Weber, Axel
Köhler, Angelika
Hahn, Andreas
Müller, Ulrich
8p23.1 duplication syndrome: narrowing of critical interval to 1.80 Mbp
title 8p23.1 duplication syndrome: narrowing of critical interval to 1.80 Mbp
title_full 8p23.1 duplication syndrome: narrowing of critical interval to 1.80 Mbp
title_fullStr 8p23.1 duplication syndrome: narrowing of critical interval to 1.80 Mbp
title_full_unstemmed 8p23.1 duplication syndrome: narrowing of critical interval to 1.80 Mbp
title_short 8p23.1 duplication syndrome: narrowing of critical interval to 1.80 Mbp
title_sort 8p23.1 duplication syndrome: narrowing of critical interval to 1.80 mbp
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4268894/
https://www.ncbi.nlm.nih.gov/pubmed/25520754
http://dx.doi.org/10.1186/s13039-014-0094-3
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