Cri-du-chat syndrome mimics Silver-Russell syndrome depending on the size of the deletion: a case report
dc.contributor.author | Vado Ranedo, Yerai | |
dc.contributor.author | Errea Dorronsoro, Javier | |
dc.contributor.author | Llano-Rivas, Isabel | |
dc.contributor.author | Gorria, Nerea | |
dc.contributor.author | Pereda, Arrate | |
dc.contributor.author | Gener, Blanca | |
dc.contributor.author | Garcia-Naveda, Laura | |
dc.contributor.author | Perez de Nanclares, Guiomar | |
dc.date.accessioned | 2019-01-16T13:08:48Z | |
dc.date.available | 2019-01-16T13:08:48Z | |
dc.date.issued | 2018-12-27 | |
dc.identifier.citation | BMC Medical Genomics 11 : (2018) // Article ID 124 | es_ES |
dc.identifier.issn | 1755-8794 | |
dc.identifier.uri | http://hdl.handle.net/10810/30910 | |
dc.description.abstract | BackgroundSilver-Russell Syndrome (SRS) is a rare growth-related genetic disorder mainly characterized by prenatal and postnatal growth failure. Although molecular causes are not clear in all cases, the most common mechanisms involved in SRS are loss of methylation on chromosome 11p15 (approximate to 50%) and maternal uniparental disomy for chromosome 7 (upd(7)mat) (approximate to 10%).Case presentationWe present a girl with clinical suspicion of SRS (intrauterine and postnatal growth retardation, prominent forehead, triangular face, mild psychomotor delay, transient neonatal hypoglycemia, mild hypotonia and single umbilical artery). Methylation and copy number variations at chromosomes 11 and 7 were studied by methylation-specific multiplex ligation-dependent probe amplification and as no alterations were found, molecular karyotyping was performed. A deletion at 5p15.33p15.2 was identified (arr[GRCh37] 5p15.33p15.2(25942-11644643)x1), similar to those found in patients with Cri-du-chat Syndrome (CdCS). CdCS is a genetic disease resulting from a deletion of variable size occurring on the short arm of chromosome 5 (5p-), whose main feature is a high-pitched mewing cry in infancy, accompanied by multiple congenital anomalies, intellectual disability, microcephaly and facial dysmorphism.ConclusionsThe absence of some CdCS features in the current patient could be due to the fact that in her case the critical regions responsible do not lie within the identified deletion. In fact, a literature review revealed a high degree of concordance between the clinical manifestations of the two syndromes. | es_ES |
dc.description.sponsorship | The costs of the publication and molecular analyses of this research were funded by grants from Instituto de Salud Carlos III (Institute of Health Carlos III) of the Spanish Ministry of Economy and Competitiveness, co-financed by the European Regional Development Fund (PI16/00073), the Department of Health of the Basque Government (GV2016111105; GV2017111040), and the University of the Basque Country UPV/EHU (PIF17/29). | es_ES |
dc.language.iso | eng | es_ES |
dc.publisher | Biomed Central | es_ES |
dc.relation | info:eu-repo/grantAgreement/MINECO/PI16/00073 | es_ES |
dc.rights | info:eu-repo/semantics/openAccess | es_ES |
dc.rights.uri | http://creativecommons.org/licenses/by/3.0/es/ | * |
dc.subject | Silver-Russell syndrome | es_ES |
dc.subject | cri-du-chat syndrome | es_ES |
dc.subject | aCGH | es_ES |
dc.subject | deletion | es_ES |
dc.subject | cat-like cry | es_ES |
dc.subject | critical region | es_ES |
dc.subject | short arm | es_ES |
dc.subject | 5p | es_ES |
dc.subject | mutation | es_ES |
dc.subject | genes | es_ES |
dc.subject | features | es_ES |
dc.title | Cri-du-chat syndrome mimics Silver-Russell syndrome depending on the size of the deletion: a case report | es_ES |
dc.type | info:eu-repo/semantics/article | es_ES |
dc.rights.holder | This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. 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. | es_ES |
dc.rights.holder | Atribución 3.0 España | * |
dc.relation.publisherversion | https://bmcmedgenomics.biomedcentral.com/articles/10.1186/s12920-018-0441-z | es_ES |
dc.identifier.doi | 10.1186/s12920-018-0441-z | |
dc.departamentoes | Farmacia y ciencias de los alimentos | es_ES |
dc.departamentoeu | Farmazia eta elikagaien zientziak | es_ES |
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