New microdeletion and microduplication syndromes: a comprehensive review

Genetics and Molecular Biology

Julián Nevado²  Rafaella Mergener¹  María Palomares-bralo²  Karen Regina Souza¹  Elena Vallespín²  Rocío Mena²  Víctor Martínez-glez²  María Ángeles Mori²  Fernando Santos²  Sixto García-miñaur²  Fé García-santiago²  Elena Mansilla²  Luis Fernández²  María Luisa De Torres²  Mariluce Riegel¹  Pablo Lapunzina² 

[1] ,Instituto de Salud Carlos III Centro de Investigación Biomédica en Red de Enfermedades Raras Madrid,Spain

关键词: microdeletion;    microduplication;    chromosome rearrangement;    novel deletions;    novel duplications;   

DOI  :  10.1590/S1415-47572014000200007

来源: SciELO

【 摘 要 】

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.

【 授权许可】

CC BY   
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