A study of reciprocal translocations and inversions detected by light microscopy with special reference to origin, segregation, and recurrent abnormalities.

@article{Youings2004ASO,
  title={A study of reciprocal translocations and inversions detected by light microscopy with special reference to origin, segregation, and recurrent abnormalities.},
  author={Sheila A Youings and Katrina Ellis and Sarah Ennis and John F. Barber and Patricia A. Jacobs},
  journal={American journal of medical genetics. Part A},
  year={2004},
  volume={126A 1},
  pages={46-60}
}
We analyzed 448 independently ascertained reciprocal translocations and 220 inversions referred to our diagnostic laboratory. Twenty-eight percent of the translocations and 8.5% of the inversions arose de novo, the proportion being influenced by the method of ascertainment. It was highest, 47%, among translocations ascertained through an abnormal phenotype. With the exception of the 3:1 unbalanced segregants, the remainders were equally likely to have been paternally or maternally inherited… CONTINUE READING

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