Recent advance in our understanding of the molecular nature of chromosomal abnormalities

Hiroki Kurahashi, Hasbaira Bolor, Takema Kato, Hiroshi Kogo, Makiko Tsutsumi, Hidehito Inagaki, Tamae Ohye

Research output: Contribution to journalReview articlepeer-review

35 Citations (Scopus)


The completion of the human genome project has enabled researchers to characterize the breakpoints for various chromosomal structural abnormalities including deletions, duplications or translocations. This in turn has shed new light on the molecular mechanisms underlying the onset of gross chromosomal rearrangements. On the other hand, advances in genetic manipulation technologies for various model organisms has increased our knowledge of meiotic chromosome segregation, errors which, contribute to chromosomal aneuploidy. This review focuses on the current understanding of germ line chromosomal abnormalities and provides an overview of the mechanisms involved. We refer to our own recent data and those of others to illustrate some of the new paradigms that have arisen in this field. We also discuss some perspectives on the sexual dimorphism of some of the pathways that leads to these chromosomal abnormalities.

Original languageEnglish
Pages (from-to)253-260
Number of pages8
JournalJournal of Human Genetics
Issue number5
Publication statusPublished - 05-2009

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)


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