New microdeletion and microduplication syndromes : a comprehensive review

• Autor(a) principal: Nevado Blanco, Julián
• Data de Publicação: 2014
• Outros Autores: Mergener, Rafaella, Palomares-Bralo, María, Souza, Karen Regina Silva de, Vallespín García, Elena, Mena, Rocío, Martínez-Glez, Víctor, Palomino, María Ángeles, Santos Simarro, Fernando, García Miñaur, Sixto, García Santiago, Fé Amalia, Mansilla Aparicio, Elena, Fernández García-Moya, Luis, Torres Pérez Hidalgo, María Luisa de, Mariluce Riegel, Mariluce Riegel, Lapunzina Badía, Pablo D.
• Tipo de documento: Artigo
• Idioma: eng
• Título da fonte: Repositório Institucional da UFRGS
• Texto Completo: http://hdl.handle.net/10183/116917
• topic: Duplicação cromossômica; Deleção cromossômica; Rearranjo gênico; Microdeletion; Microduplication; Chromosome rearrangement; Novel deletions; Novel duplications

Several 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.