Paint/DAPI Analysis of Mouse Zygotes to Detect Paternally Transmitted Chromosomal Aberrations

  • Francesco Marchetti
  • Andrew J. Wyrobek
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 518)


Chromosomal abnormalities transmitted through gametes are associated with pregnancy loss, infant mortality, developmental and morphological defects, infertility and genetic diseases including cancer (Chandley, 1991; Wyrobek, 1993; Hassold et al, 1996; McFadden and Friedman, 1997; Wyrobek et al., 2000; Hassold and Hunt, 2001). These abnormalities are typically de novo events that originate in the germ cells of either parent. The relative parental contribution to transmitted chromosomal aberrations has been shown to depend on the specific chromosomes and defects that are involved. Autosomal aneuploidies are predominantly maternal in origin (Hassold et al, 1996; Hassold and Hunt, 2001), while sex chromosomal aneuploidies have a substantial paternal contribution (Hassold et al, 1993; Hassold, 1998). In addition, more than 80% of de novo structural chromosomal abnormalities among livebirths appear to be paternally derived (Olson and Magenis, 1988; Overhauser et al., 1990; Chandley, 1991; Dallapiccola et al., 1993; Cody et al., 1997). There is epidemiological evidence linking paternal occupational or environmental exposure to abnormal reproductive outcomes (Narod et al., 1988; Savitz and Chen, 1990; Olshan, 1995]); however, despite the health risk to the developing embryo and offspring, little is known about the etiology of paternally-derived chromosomal abnormalities. Research with laboratory animals is essential for identifying and characterizing reproductive toxicants and for assessing the human risk of exposure to such agents


Germ Cell Probe Combination Translocation Carrier Chromosomal Exchange Mouse Zygote 
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Copyright information

© Springer Science+Business Media New York 2003

Authors and Affiliations

  • Francesco Marchetti
    • 1
  • Andrew J. Wyrobek
    • 1
  1. 1.Biology and Biotechnology Research ProgramLawrence Livermore National LaboratoryLivermoreUSA

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