Genomic Structural Variants

Volume 838 of the series Methods in Molecular Biology pp 29-75


Microdeletion and Microduplication Syndromes

  • Lisenka E. L. M. VissersAffiliated withDepartment of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre
  • , Paweł StankiewiczAffiliated withDepartment of Molecular and Human Genetics, Baylor College of MedicineDepartment of Medical Genetics, Institute of Mother and Child Email author 

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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