Table of Contents:
  • Inversion chromosomes / Orsetta Zuffardi ... [et al.]
  • Monosomy 1p36 as a model for the molecular basis of terminal deletions / Blake C. Ballif and Lisa G. Shaffer
  • Inv dup(15) and inv dup(22) / Heather E. McDermid and Rachel Wevrick
  • Mechanisms underlying neoplasia-associated genomic rearrangements / Thoas Fioretos
  • Recombination hotspots in nonallelic homologous recombination / Matthew E. Hurles and James R. Lupski
  • Position effects / Paweł Stankiewicz
  • Chromosome-engineered mouse models / Pentao Liu
  • Array-CGH for the analysis of constitutional genomic rearrangements / Nigel P. Carter ... [et al.]
  • Appendix A: Well-characterized rearrangement-based diseases and genome structural features at the locus / Paweł Stankiewicz and James R. Lupski
  • Appendix B: Diagnostic potential for chromosome microarray analysis / Paweł Stankiewicz, Sau W. Cheung and Arthur L. Beaudet.
  • The CMT1A duplication and HNPP deletion / Vincent Timmerman and James R. Lupski
  • Smith-Magenis syndrome deletion, reciprocal duplication dup(17)(p11.2p11.2), and other proximal 17p rearrangements / Paweł Stankiewicz, Weimin Bi, and James R. Lupski
  • Chromosome 22q11.2 rearrangement disorders / Bernice E. Morrow
  • Neurofibromatosis 1 / Karen Stephens
  • Williams-Beuren syndrome / Stephen W. Scherer and Lucy R. Osborne
  • Sotos syndrome / Naohiro Kurotaki and Naomichi Matsumoto
  • X chromosome rearrangements / Pauline H. Yen
  • Pelizaeus-Merzbacher disease and spastic paraplegia type 2 / Ken Inoue
  • Y-chromosomal rearrangements and azoospermia / Matthew E. Hurles and Chris Tyler-Smith
  • The CMT1A duplication: a historical perspective viewed from two sides of an ocean / James R. Lupski and Vincent Timmerman
  • Alu elements / Prescott Deininger
  • The impact of LINE-1 retrotransposition on the human genome / Amy E. Hulme ... [et al.]
  • Ancient transposable elements, processed pseudogenes, and endogenous retroviruses / Adam Pavlicek and Jerzy Jurka
  • Segmental duplications / Andrew J. Sharp and Evan E. Eichler
  • Non-B DNA and chromosomal rearrangements / Albino Bacolla and Robert D. Wells
  • Genetic basis of olfactory deficits / Idan Menashe, Ester Feldmesser, and Doron Lancet
  • Genomic organization and function of human centromeres / Huntington F. Willard and M. Katharine Rudd
  • Primate chromosome evolution / Stefan Müller
  • Genome plasticity in evolution: the centromere repositioning / Mariano Rocchi and Nicoletta Archidiacono