Microdeletion and Microduplication Syndromes

Part of the Methods in Molecular Biology book series (MIMB, volume 838)


During the past decade, widespread use of microarray-based technologies, including oligonucleotide array comparative genomic hybridization (aCGH) and single nucleotide polymorphism (SNP) genotyping arrays have dramatically changed our perspective on genome-wide structural variation. Submicroscopic genomic rearrangements or copy-number variation (CNV) have proven to be an important factor responsible for primate evolution, phenotypic differences between individuals and populations, and susceptibility to many diseases. The number of diseases caused by chromosomal microdeletions and microduplications, also referred to as genomic disorders, has been increasing at a rapid pace. Microdeletions and microduplications are found in patients with a wide variety of phenotypes, including Mendelian diseases as well as common complex traits, such as developmental delay/intellectual disability, autism, schizophrenia, obesity, and epilepsy. This chapter provides an overview of common microdeletion and microduplication syndromes and their clinical phenotypes, and discusses the genomic structures and molecular mechanisms of formation. In addition, an explanation for how these genomic rearrangements convey abnormal phenotypes is provided.

Key words

Copy-number variation Recurrent and nonrecurrent genomic rearrangements Contiguous gene deletion/duplication syndrome Higher-order genomic structure NAHR NHEJ MMBIR DNA microhomology Genomic disorders 



This work was supported by grants from the Netherlands Organization for Health Research and Development (ZonMW 916.86.016 to L.E.L.M.V.) and from the Polish Ministry of Science and Higher Education (R13-0005-04/2008 to P.S.). We appreciate the critical reviews of Drs. J.R. Lupski and F. Probst. We thank Z. Xia for editorial assistance. We apologize to colleagues and the authors of relevant papers who could not be cited owing to space limitations.


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Copyright information

© Springer Science+Business Media, LLC 2012

Authors and Affiliations

  • Lisenka E. L. M. Vissers
    • 1
  • Paweł Stankiewicz
    • 2
    • 3
  1. 1.Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Nijmegen Centre for Molecular Life SciencesRadboud University Nijmegen Medical CentreNijmegenThe Netherlands
  2. 2.Department of Molecular and Human GeneticsBaylor College of MedicineHoustonUSA
  3. 3.Department of Medical GeneticsInstitute of Mother and ChildWarsawPoland

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