Rare form of autosomal dominant familial Cornelia de Lange syndrome due to a novel duplication in SMC3

Clinical features are variable in patients with Cornelia de Lange syndrome (CdLS). Milder forms exist with structural maintenance of chromosomes 3 (SMC3) mutations. Inherited milder forms of CdLS are uncommon and may be missed if genetic testing is limited to Nipped‐B‐like protein (NIPBL) and SMC1A....

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Autores principales: Infante, Elena, Alkorta‐Aranburu, Gorka, El‐Gharbawy, Areeg
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5538066/
https://www.ncbi.nlm.nih.gov/pubmed/28781842
http://dx.doi.org/10.1002/ccr3.1010
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author Infante, Elena
Alkorta‐Aranburu, Gorka
El‐Gharbawy, Areeg
author_facet Infante, Elena
Alkorta‐Aranburu, Gorka
El‐Gharbawy, Areeg
author_sort Infante, Elena
collection PubMed
description Clinical features are variable in patients with Cornelia de Lange syndrome (CdLS). Milder forms exist with structural maintenance of chromosomes 3 (SMC3) mutations. Inherited milder forms of CdLS are uncommon and may be missed if genetic testing is limited to Nipped‐B‐like protein (NIPBL) and SMC1A. Parental studies should be pursued if there is a history of learning disabilities and/or dysmorphic features.
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spelling pubmed-55380662017-08-04 Rare form of autosomal dominant familial Cornelia de Lange syndrome due to a novel duplication in SMC3 Infante, Elena Alkorta‐Aranburu, Gorka El‐Gharbawy, Areeg Clin Case Rep Case Reports Clinical features are variable in patients with Cornelia de Lange syndrome (CdLS). Milder forms exist with structural maintenance of chromosomes 3 (SMC3) mutations. Inherited milder forms of CdLS are uncommon and may be missed if genetic testing is limited to Nipped‐B‐like protein (NIPBL) and SMC1A. Parental studies should be pursued if there is a history of learning disabilities and/or dysmorphic features. John Wiley and Sons Inc. 2017-06-28 /pmc/articles/PMC5538066/ /pubmed/28781842 http://dx.doi.org/10.1002/ccr3.1010 Text en © 2017 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the Creative Commons Attribution‐NonCommercial‐NoDerivs (http://creativecommons.org/licenses/by-nc-nd/4.0/) License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
spellingShingle Case Reports
Infante, Elena
Alkorta‐Aranburu, Gorka
El‐Gharbawy, Areeg
Rare form of autosomal dominant familial Cornelia de Lange syndrome due to a novel duplication in SMC3
title Rare form of autosomal dominant familial Cornelia de Lange syndrome due to a novel duplication in SMC3
title_full Rare form of autosomal dominant familial Cornelia de Lange syndrome due to a novel duplication in SMC3
title_fullStr Rare form of autosomal dominant familial Cornelia de Lange syndrome due to a novel duplication in SMC3
title_full_unstemmed Rare form of autosomal dominant familial Cornelia de Lange syndrome due to a novel duplication in SMC3
title_short Rare form of autosomal dominant familial Cornelia de Lange syndrome due to a novel duplication in SMC3
title_sort rare form of autosomal dominant familial cornelia de lange syndrome due to a novel duplication in smc3
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5538066/
https://www.ncbi.nlm.nih.gov/pubmed/28781842
http://dx.doi.org/10.1002/ccr3.1010
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