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dc.contributor.authorNevado Blanco, Juliánpt_BR
dc.contributor.authorMergener, Rafaellapt_BR
dc.contributor.authorPalomares-Bralo, Maríapt_BR
dc.contributor.authorSouza, Karen Regina Silva dept_BR
dc.contributor.authorVallespín García, Elenapt_BR
dc.contributor.authorMena, Rocíopt_BR
dc.contributor.authorMartínez-Glez, Víctorpt_BR
dc.contributor.authorPalomino, María Ángelespt_BR
dc.contributor.authorSantos Simarro, Fernandopt_BR
dc.contributor.authorGarcía Miñaur, Sixtopt_BR
dc.contributor.authorGarcía Santiago, Fé Amaliapt_BR
dc.contributor.authorMansilla Aparicio, Elenapt_BR
dc.contributor.authorFernández García-Moya, Luispt_BR
dc.contributor.authorTorres Pérez Hidalgo, María Luisa dept_BR
dc.contributor.authorMariluce Riegel, Mariluce Riegelpt_BR
dc.contributor.authorLapunzina Badía, Pablo D.pt_BR
dc.date.accessioned2015-05-22T02:00:28Zpt_BR
dc.date.issued2014pt_BR
dc.identifier.issn1415-4757pt_BR
dc.identifier.urihttp://hdl.handle.net/10183/116917pt_BR
dc.description.abstractSeveral new microdeletion and microduplication syndromes are emerging as disorders that have been proven to cause multisystem pathologies frequently associated with intellectual disability (ID), multiple congenital anomalies (MCA), autistic spectrum disorders (ASD) and other phenotypic findings. In this paper, we review the “new” and emergent microdeletion and microduplication syndromes that have been described and recognized in recent years with the aim of summarizing their main characteristics and chromosomal regions involved. We decided to group them by genomic region and within these groupings have classified them into those that include ID, MCA, ASD or other findings. This review does not intend to be exhaustive but is rather a quick guide to help pediatricians, clinical geneticists, cytogeneticists and/or molecular geneticists.en
dc.format.mimetypeapplication/pdfpt_BR
dc.language.isoengpt_BR
dc.relation.ispartofGenetics and molecular biology. Ribeirão Preto, SP. Vol. 37, no. 1, suppl. 1 (2014), p. 210-219.pt_BR
dc.rightsOpen Accessen
dc.subjectDuplicação cromossômicapt_BR
dc.subjectMicrodeletionen
dc.subjectMicroduplicationen
dc.subjectDeleção cromossômicapt_BR
dc.subjectRearranjo gênicopt_BR
dc.subjectChromosome rearrangementen
dc.subjectNovel deletionsen
dc.subjectNovel duplicationsen
dc.titleNew microdeletion and microduplication syndromes : a comprehensive reviewpt_BR
dc.typeArtigo de periódicopt_BR
dc.identifier.nrb000942469pt_BR
dc.type.originNacionalpt_BR


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