Clinical and cytogenomic findings in OAV spectrum

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dc.contributor.author Bragagnolo, Silvia [UNIFESP]
dc.contributor.author Colovati, Mileny E. S. [UNIFESP]
dc.contributor.author Souza, Malu Z. [UNIFESP]
dc.contributor.author Dantas, Anelise G. [UNIFESP]
dc.contributor.author de Soares, Maria F. F. [UNIFESP]
dc.contributor.author Melaragno, Maria I. [UNIFESP]
dc.contributor.author Perez, Ana B. [UNIFESP]
dc.date.accessioned 2020-07-08T13:09:35Z
dc.date.available 2020-07-08T13:09:35Z
dc.date.issued 2018
dc.identifier http://dx.doi.org/10.1002/ajmg.a.38576
dc.identifier.citation American Journal Of Medical Genetics Part A. Hoboken, v. 176, n. 3, p. 638-648, 2018.
dc.identifier.issn 1552-4825
dc.identifier.uri https://repositorio.unifesp.br/handle/11600/54084
dc.description.abstract The oculoauriculovertebral spectrum (OAVS) is characterized by anomalies involving the development of the first and second pharyngeal arches during the embryonic period. The phenotype is highly heterogeneous, involving ears, eyes, face, neck, and other systems and organs. There is no agreement in the literature for the minimum phenotypic inclusion criteria, but the primary phenotype involves hemifacial microsomia with facial asymmetry and microtia. Most cases are sporadic and the etiology of this syndrome is not well known. Environmental factors, family cases that demonstrate Mendelian inheritance, such as preauricular appendages, microtia, mandibular hypoplasia, and facial asymmetry en
dc.description.abstract chromosomal abnormalities and some candidate genes suggest a multifactorial inheritance model. We evaluated clinical, cytogenomic and molecularly 72 patients with OAVS, and compared our findings with patients from the literature. We found 15 CNVs (copy number variations) considered pathogenic or possibly pathogenic in 13 out of 72 patients. Our results did not indicated a single candidate genomic region, but recurrent chromosomal imbalances were observed in chromosome 4 and 22, in regions containing genes relevant to the OAVS phenotype or related to known OMIM diseases suggesting different pathogenic mechanisms involved in this genetically and phenotypic heterogeneous spectrum. en
dc.description.sponsorship FAPESP
dc.format.extent 638-648
dc.language.iso eng
dc.publisher Wiley
dc.relation.ispartof American Journal Of Medical Genetics Part A
dc.rights Acesso aberto
dc.subject craniofacial microsomia en
dc.subject Goldenhar Syndrome en
dc.subject hemifacial microsomia en
dc.subject oculoauriculovertebral syndrome en
dc.title Clinical and cytogenomic findings in OAV spectrum en
dc.type Artigo
dc.description.affiliation Univ Fed Sao Paulo, Dept Morphol & Genet, Rua Botucatu 740, BR-04023900 Sao Paulo, Brazil
dc.description.affiliation Univ Fed Sao Paulo, Dept Radiol, Sao Paulo, Brazil
dc.description.affiliationUnifesp Univ Fed Sao Paulo, Dept Morphol & Genet, Rua Botucatu 740, BR-04023900 Sao Paulo, Brazil
dc.description.affiliationUnifesp Univ Fed Sao Paulo, Dept Radiol, Sao Paulo, Brazil
dc.description.sponsorshipID FAPESP: 2013/04623-2, 2013/19897-0
dc.identifier.doi 10.1002/ajmg.a.38576
dc.description.source Web of Science
dc.identifier.wos WOS:000425118400011
dc.coverage Hoboken
dc.citation.volume 176
dc.citation.issue 3



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