Wolf-hirschhorn syndrome with epibulbar dermoid: an unusual association in a patient with 4p deletion and functional xp disomy

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dc.contributor.author Bragagnolo, Silvia
dc.contributor.author Colovati, Mileny E. S.
dc.contributor.author Guilherme, Roberta S.
dc.contributor.author Dantas, Anelisa G.
dc.contributor.author de Souza, Malu Zamariolli
dc.contributor.author de Soares, Maria F.
dc.contributor.author Melaragno, Maria I.
dc.contributor.author Perez, Ana B.
dc.date.accessioned 2019-01-21T10:29:34Z
dc.date.available 2019-01-21T10:29:34Z
dc.date.issued 2016
dc.identifier https://doi.org/10.1159/000452237
dc.identifier.citation Cytogenetic And Genome Research. Basel, v. 150, n. 1, p. 17-22, 2016.
dc.identifier.issn 1424-8581
dc.identifier.uri http://repositorio.unifesp.br/handle/11600/49273
dc.description.abstract Wolf-Hirschhorn syndrome (WHS) is a contiguous gene and multiple malformation syndrome that results from a deletion in the 4p16.3 region. We describe here a 6-month-old girl that presented with WHS features but also displayed unusual findings, such as epibulbar dermoid in the left eye, ear tags, and left microtia. Although on G-banding her karyotype appeared to be normal, chromosomal microarray analysis revealed an similar to 13-Mb 4p16.3p15.33 deletion and an similar to 9-Mb Xp22.33p22.31 duplication, resulting from a balanced maternal t(X en
dc.description.abstract 4)(p22.31 en
dc.description.abstract p15.33) translocation. The patient presented with functional Xp disomy due to an unbalanced X-autosome translocation, a rare cytogenetic finding in females with unbalanced rearrangements. Sequencing of both chromosome breakpoints detected no gene disruption. To the best of our knowledge, this is the first patient described in the literature with WHS and epibulbar dermoid, a typical characteristic of the oculoauriculovertebral spectrum (OAVS). Our data suggest that possible candidate genes for OAVS may have been deleted along with the WHS critical region. (C) 2016 S. Karger AG, Basel en
dc.description.sponsorship Sao Paulo Research Foundation (FAPESP) [2013/04623-2]
dc.format.extent 17-22
dc.language.iso eng
dc.publisher Esmon Publicidad S A
dc.relation.ispartof Cytogenetic And Genome Research
dc.rights Acesso restrito
dc.subject Deletion 4p en
dc.subject Epibulbar Dermoid en
dc.subject Translocation Sequencing en
dc.subject Wolf-Hirschhorn Syndrome en
dc.subject Xp DuplicationAuriculo-Vertebral Spectrum en
dc.subject Of-The-Literature en
dc.subject Chromosome Region en
dc.subject Manifestations en
dc.subject Translocation en
dc.subject Seizures en
dc.subject Phenotype en
dc.subject Update en
dc.subject Female en
dc.title Wolf-hirschhorn syndrome with epibulbar dermoid: an unusual association in a patient with 4p deletion and functional xp disomy en
dc.type Artigo
dc.description.affiliation Department of Morphology and Genetics, Universidade Federal de São Paulo, Rua Botucatu 740, BR-04023900 Sao Paulo, SP, Brazil
dc.description.affiliation Department of Radiology, Universidade Federal de São Paulo, São Paulo, Brazil
dc.description.affiliationUnifesp Department of Morphology and Genetics, Universidade Federal de São Paulo, Rua Botucatu 740, BR-04023900 Sao Paulo, SP, Brazil
dc.description.affiliationUnifesp Department of Radiology, Universidade Federal de São Paulo, São Paulo, Brazil
dc.description.sponsorshipID FAPESP: 2013/04623-2
dc.identifier.doi 10.1159/000452237
dc.description.source Web of Science
dc.identifier.wos WOS:000392331200002



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