Deep Phenotyping and Genetic Characterization of a Cohort of 70 Individuals With 5p Minus Syndrome

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dc.contributor.advisorSáenz-Rico De Santiago, María Belén
dc.contributor.advisorJulian Nevado Blanco
dc.contributor.authorNevado, Julian
dc.contributor.authorBel Fenellos, María Cristina
dc.contributor.authorSandoval-Talamantes, Ana Karen
dc.contributor.authorHernández Estrada, Adolfo
dc.contributor.authorBiencinto López, Chantal-María
dc.contributor.authorMartínez-Fernández, María Luisa
dc.contributor.authorBarrúz, Pilar
dc.contributor.authorSantos-Simarro, Fernando
dc.contributor.authorMori-Álvarez, María Ángeles
dc.contributor.authorMansilla, Elena
dc.contributor.authorGarcía-Santiago, Fé Amalia
dc.contributor.authorValcorba, Isabel
dc.contributor.authorSáenz-Rico De Santiago, María Belén
dc.contributor.authorMartínez-Frías, María Luisa
dc.contributor.authorLapunzina, Pablo
dc.contributor.editorKatalin Komlosi, Medical Center – University of Freiburg, Germany
dc.date.accessioned2024-02-07T19:54:46Z
dc.date.available2024-02-07T19:54:46Z
dc.date.issued2021-07-30
dc.descriptionEsta publicación se deriva de la Tesis Doctoral de Dña Cristina Bell Fenellos defendida en la Universidad Complutense de Madrid. Cuyos directores de Tesis Doctoral han sido los profesores Belen Sáenz-Rico de Santiago y Julian Nevado Blanco. Investigación con un enfoque interdisciplinar necesario al tratarse de un estudio cuya población es una enfermedad rara.
dc.description.abstractChromosome-5p minus syndrome (5p-Sd, OMIM #123450) formerly known as Cri duChat syndrome results from the loss of genetic material at the distal region of the short arm of chromosome 5. It is a neurodevelopmental disorder of genetic cause. So far, about 400 patients have been reported worldwide. Individuals affected by this syndrome have large phenotypic heterogeneity. However, a specific phenotype has emerged including global developmental delay, microcephaly, delayed speech, some dysmorphic features, and a characteristic and monochromatic high-pitch voice, resembling a cat’s cry. We here describe a cohort of 70 patients with clinical features of 5p- Sd characterized by means of deep phenotyping, SNP arrays, and other genetic approaches. Individuals have a great clinical and molecular heterogeneity, which can be partially explained by the existence of additional significant genomic rearrangements in around 39% of cases. Thus, our data showed significant statistical differences between subpopulations (simple 5p deletions versus 5p deletions plus additional rearrangements) of the cohort. We also determined significant “functional” differences between male andfemale individuals
dc.description.departmentDepto. de Estudios Educativos
dc.description.facultyFac. de Educación
dc.description.refereedTRUE
dc.description.statuspub
dc.identifier.citationNevado J, Bel-Fenellós C, Sandoval-Talamantes AK, Hernández A, Biencinto-López C, Martínez-Fernández ML, Barrúz P, Santos-Simarro F, Mori-Álvarez MÁ, Mansilla E, García-Santiago FA, Valcorba I, Sáenz-Rico B, Martínez-Frías ML and Lapunzina P. (2021). Deep Phenotyping and Genetic Characterization of a Cohort of 70 Individuals With 5p Minus Syndrome. Front. Genet. 12(645595). doi: 10.3389/fgene.2021.645595
dc.identifier.doi10.3389/fgene.2021.645595
dc.identifier.issn1664-8021
dc.identifier.officialurlhttps://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2021.645595/full
dc.identifier.relatedurlhttps://produccioncientifica.ucm.es/documentos/6120cd3ec9cf785bac8ddf5d
dc.identifier.relatedurlhttps://scholar.google.com/scholar_lookup?title=Deep+Phenotyping+and+Genetic+Characterization+of+a+Cohort+of+70+Individuals+With+5p+Minus+Syndrome&author=Nevado%2C+J.&author=Bel-Fenell%C3%B3s%2C+C.&author=Sandoval-Talamantes%2C+A.K.&author=Hern%C3%A1ndez%2C+A.&author=Biencinto-L%C3%B3pez%2C+C.&author=Mart%C3%ADnez-Fern%C3%A1ndez%2C+M.L.&author=Barr%C3%BAz%2C+P.&author=Santos-Simarro%2C+F.&author=Mori-%C3%81lvarez%2C+M.%C3%81.&author=Mansilla%2C+E.&author=Garc%C3%ADa-Santiago%2C+F.A.&author=Valcorba%2C+I.&author=S%C3%A1enz-Rico%2C+B.&author=Mart%C3%ADnez-Fr%C3%ADas%2C+M.L.&author=Lapunzina%2C+P.&publication_year=2021&journal=Frontiers+in+Genetics&volume=12&issue=&doi=10.3389/FGENE.2021.645595&issn=1664-8021&hl=es
dc.identifier.urihttps://hdl.handle.net/20.500.14352/100143
dc.issue.number645595
dc.journal.titleFrontiers in Genetics
dc.language.isospa
dc.publisherFront. Genet., Sec. Human and Medical Genomics
dc.rightsAttribution-NonCommercial-NoDerivatives 4.0 Internationalen
dc.rights.accessRightsopen access
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/
dc.subject.cdu37.013
dc.subject.cdu37.012
dc.subject.cdu616-053.2
dc.subject.cdu159.922
dc.subject.cdu612.65-053.2
dc.subject.keyword5p-minus syndrome
dc.subject.keywordIntellectual disabilities
dc.subject.keywordCri du chat
dc.subject.keywordSubtelomeric deletion
dc.subject.keywordBehavior problems
dc.subject.ucmCiencias Biomédicas
dc.subject.ucmCiencias Sociales
dc.subject.ucmMétodos de investigación en educación
dc.subject.unesco61 Psicología
dc.subject.unesco58 Pedagogía
dc.subject.unesco32 Ciencias Médicas
dc.titleDeep Phenotyping and Genetic Characterization of a Cohort of 70 Individuals With 5p Minus Syndrome
dc.typejournal article
dc.type.hasVersionAM
dc.volume.number12
dspace.entity.typePublication
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