Human Genetics

, Volume 108, Issue 1, pp 31–36 | Cite as

Transmission ratio distortion in offspring of heterozygous female carriers of Robertsonian translocations

  • Fernando de Villena
  • Carmen Sapienza
Original Investigation


Robertsonian translocations are the most common structural rearrangements of human chromosomes. Although segregation of Robertsonian chromosomes has been examined in many families, there is little consensus on whether inheritance in the balanced progeny conforms to Mendelian ratios. To address this question, we have compiled previously reported segregation data, by sex of parent, for 677 balanced offspring of Robertsonian carriers from 82 informative families and from a prenatal diagnosis study on the risk of unbalanced offspring in carriers of chromosome rearrangements. Care was taken to avoid any source of ascertainment bias. Our analysis supports the following conclusions: (1) the transmission ratio is not independent of the sex of the carrier; (2) the transmission ratio distortion is observed consistently only among the offspring of carrier females; (3) the transmission ratio distortion does not appear to be dependent on the presence of a specific acrocentric chromosome in the rearrangement. The sex-of-parent-specific origin of the non-Mendelian inheritance, the finding that the rearranged ("mutant") chromosomes are recovered at significantly higher frequency than the acrocentric ("normal") chromosomes, and the similarities between these observations and the segregation of analogous rearrangements through female meiosis in other vertebrates strongly support the hypothesis that the transmission ratio distortion in favor of Robertsonian translocations in the human results from the preferential segregation of chromosomes during the first meiotic division. This non-Mendelian inheritance will result in increased overall risk of aneuploidies in the families of Robertsonian translocation carriers, independently of the origin of the transmission ratio distortion.


Meiotic Division Transmission Ratio Ascertainment Bias Acrocentric Chromosome Carrier Female 
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Copyright information

© Springer-Verlag 2000

Authors and Affiliations

  • Fernando de Villena
    • 1
  • Carmen Sapienza
    • 2
  1. 1.Fels Institute for Cancer Research and Molecular Biology, Temple University School of Medicine, Philadelphia, PA 19140, USA
  2. 2.Fels Institute for Cancer Research and Molecular Biology, Department of Pathology and Laboratory Medicine, Temple University School of Medicine, Philadelphia, PA 19140, USA

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