Repositório Digital

A- A A+

New microdeletion and microduplication syndromes : a comprehensive review

.

New microdeletion and microduplication syndromes : a comprehensive review

Mostrar registro completo

Estatísticas

Título New microdeletion and microduplication syndromes : a comprehensive review
Autor Nevado Blanco, Julián
Mergener, Rafaella
Palomares-Bralo, María
Souza, Karen Regina Silva de
Vallespín García, Elena
Mena, Rocío
Martínez-Glez, Víctor
Palomino, María Ángeles
Santos Simarro, Fernando Santos
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.
Abstract 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.
Contido em Genetics and molecular biology. Ribeirão Preto, SP. Vol. 37, no. 1, suppl. 1 (2014), p. 210-219
Assunto Deleção cromossômica
Duplicação cromossômica
Rearranjo gênico
[en] Chromosome rearrangement
[en] Microdeletion
[en] Microduplication
[en] Novel deletions
[en] Novel duplications
Origem Nacional
Tipo Artigo de periódico
URI http://hdl.handle.net/10183/116917
Arquivos Descrição Formato
000942469.pdf (3.630Mb) Texto completo (inglês) Adobe PDF Visualizar/abrir

Este item está licenciado na Creative Commons License

Este item aparece na(s) seguinte(s) coleção(ões)


Mostrar registro completo

Percorrer



  • O autor é titular dos direitos autorais dos documentos disponíveis neste repositório e é vedada, nos termos da lei, a comercialização de qualquer espécie sem sua autorização prévia.
    Projeto gráfico elaborado pelo Caixola - Clube de Criação Fabico/UFRGS Powered by DSpace software, Version 1.8.1.