Parental origin of apparently balanced de novo complex chromosomal rearrangements investigated by microdissection, whole genome amplification, and microsatellite-mediated haplotype analysis.

@article{Grossmann2010ParentalOO,
  title={Parental origin of apparently balanced de novo complex chromosomal rearrangements investigated by microdissection, whole genome amplification, and microsatellite-mediated haplotype analysis.},
  author={Vera Grossmann and Martina H{\"o}ckner and Houda Karmous-Benailly and Dongchen Liang and Rudolf Puttinger and Roberto Quadrelli and Benno Roethlisberger and Ariana Huber and Lanou Wu and Ana Spreiz and Christine Fauth and Martin Erdel and Johannes Zschocke and Gerd Utermann and Dieter Kotzot},
  journal={Clinical genetics},
  year={2010},
  volume={78 6},
  pages={548-53}
}
Complex chromosomal rearrangements (CCRs) are rare findings in clinical cytogenetics. As a result of the high risk of unbalanced segregation, familial cases are even rarer and maternal transmission occurs more frequently than paternal transmission. Analogous to Drosophila and mice, as well as to CCRs involving the Y chromosome or a clinically relevant associated deletion, a preferential origin in spermatogenesis has been assumed but not proven directly and systematically thus far. Here, we… CONTINUE READING