| Registro completo |
| Provedor de dados: |
74
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| País: |
Brazil
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| Título: |
New microdeletion and microduplication syndromes: a comprehensive review
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| Autores: |
Nevado,Julián
Mergener,Rafaella
Palomares-Bralo,María
Souza,Karen Regina
Vallespín,Elena
Mena,Rocío
Martínez-Glez,Víctor
Mori,María Ángeles
Santos,Fernando
García-Miñaur,Sixto
García-Santiago,Fé
Mansilla,Elena
Fernández,Luis
Torres,María Luisa de
Riegel,Mariluce
Lapunzina,Pablo
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| Data: |
2014-01-01
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| Ano: |
2014
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| Palavras-chave: |
Microdeletion
Microduplication
Chromosome rearrangement
Novel deletions
Novel duplications
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| Resumo: |
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.
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| Tipo: |
Info:eu-repo/semantics/article
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| Idioma: |
Inglês
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| Identificador: |
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572014000200007
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| Editor: |
Sociedade Brasileira de Genética
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| Relação: |
10.1590/S1415-47572014000200007
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| Formato: |
text/html
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| Fonte: |
Genetics and Molecular Biology v.37 n.1 suppl.1 2014
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| Direitos: |
info:eu-repo/semantics/openAccess
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