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Genet Mol Biol. 2014 Mar;37(1 Suppl):210-9.

New microdeletion and microduplication syndromes: A comprehensive review.

Author information

  • 1Centro de Investigación Biomédica en Red de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain . ; Section of Functional and Structural Genomics, Instituto de Genética Médica y Molecular, Hospital Universitario la Paz, Madrid, Spain .
  • 2Programa de Pós-graduação em Genética e Biologia Molecular, Universidade Federal do Rio Grande do Sul, Porto Alegre,RS, Brazil .
  • 3Centro de Investigación Biomédica en Red de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain . ; Section of Clinical Genetics, Instituto de Genética Médica y Molecular, Hospital Universitario la Paz, Madrid, Spain .
  • 4Centro de Investigación Biomédica en Red de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain . ; Section of Cytogenetics, Instituto de Genética Médica y Molecular, Hospital Universitario la Paz, Madrid, Spain .
  • 5Centro de Investigación Biomédica en Red de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain . ; Section of Preanalytics, Instituto de Genética Médica y Molecular, Hospital Universitario la Paz, Madrid, Spain .
  • 6Programa de Pós-graduação em Genética e Biologia Molecular, Universidade Federal do Rio Grande do Sul, Porto Alegre,RS, Brazil . ; Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil .
  • 7Centro de Investigación Biomédica en Red de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain . ; Section of Clinical Genetics, Instituto de Genética Médica y Molecular, Hospital Universitario la Paz, Madrid, Spain . ; Section of Molecular Endocrinology, Overgrowth Disordes Laboratory, Instituto de Genética Médica y Molecular, Hospital Universitario la Paz, Madrid, Spain .

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.

KEYWORDS:

chromosome rearrangement; microdeletion; microduplication; novel deletions; novel duplications

PMID:
24764755
PMCID:
PMC3983590

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