Complex chromosomal rearrangements

Research output: Contribution to journalReview articlepeer-review

Abstract

Complex Chromosomal Rearrangements (CCRs) are constitutional structural rearrangements involving three or more chromosomes or having more than two breakpoints. CCRs preferentially occur during spermatogenesis and are transmitted in families through oogenesis. Recent investigation showed that CCRs are more complex and more common than initially appreciated. Here I present an overview of CCRs, including the important impact of CCRs in fertility, the mechanism of their development, the various meiotic errors that can occur and their consequences. The review also discusses the differential transmission of CCRs in males and females, the incidence of pregnancy outcomes of CCR carriers, genetic counseling and prenatal diagnosis.

Original languageEnglish
Pages (from-to)57-69
Number of pages13
JournalGenetic Counseling
Volume18
Issue number1
Publication statusPublished - 2007
Externally publishedYes

Keywords

  • CCR
  • Cryptic chromosomal abnormalities
  • Prenatal diagnosis

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