New microdeletion and microduplication syndromes: a comprehensive review

New microdeletion and microduplication syndromes: a comprehensive review

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...

Full description

Bibliographic Details
Main Authors: Julián Nevado, Rafaella Mergener, María Palomares-Bralo, Karen Regina Souza, Elena Vallespín, Rocío Mena, Víctor Martínez-Glez, María Ángeles Mori, Fernando Santos, Sixto García-Miñaur, Fé García-Santiago, Elena Mansilla, Luis Fernández, María Luisa de Torres, Mariluce Riegel, Pablo Lapunzina
Format: Article
Language:English
Published: Sociedade Brasileira de Genética 2014-01-01
Series:Genetics and Molecular Biology
Subjects:
microdeletion
microduplication
chromosome rearrangement
novel deletions
novel duplications
Online Access:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572014000200007&lng=en&tlng=en

Internet

http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572014000200007&lng=en&tlng=en

Similar Items