title: Segmental duplications: an 'expanding' role in genomic instability and disease.
abstract: The knowledge that specific genetic diseases are caused by recurrent chromosomal aberrations has indicated that genomic instability might be directly related to the structure of the regions involved. The sequencing of the human genome has directed significant attention towards understanding the molecular basis of such recombination 'hot spots'. Segmental duplications have emerged as a significant factor in the aetiology of disorders that are caused by abnormal gene dosage. These observations bring us closer to understanding the mechanisms and consequences of genomic rearrangement.
authors.affiliation: Division of Human Genetics and Molecular Biology, 1002 Abramson Research Center, The Children's Hospital of Philadelphia, 3516 Civic Center Blvd, Philadelphia, Pennsylvania 19104, USA. beverly@mail.med.upenn.edu
authors.forename: B S
authors.initials: BS
authors.lastname: Emanuel
authors.forename: T H
authors.initials: TH
authors.lastname: Shaikh
mesh_terms: D017204:Angelman Syndrome / Q000235:genetics; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics; D002869:Chromosome Aberrations; D002877:Chromosomes, Human / Q000235:genetics / Q000648:ultrastructure; D017353:Gene Deletion; D018628:Gene Dosage; D020440:Gene Duplication; D030342:Genetic Diseases, Inborn / Q000235:genetics*; D015417:Hereditary Sensory and Motor Neuropathy / Q000235:genetics; D006801:Humans; D011218:Prader-Willi Syndrome / Q000235:genetics; D011995:Recombination, Genetic; D012091:Repetitive Sequences, Nucleic Acid; D014178:Translocation, Genetic