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Duplication-deficiency of chromosome 18, resulting from recombination of a paternal pericentric inversion, with a note for genetic counselling

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Summary

A fifth case of rec(18) resulting from recombination of a paternal pericentric inversion is described. The propositus' complement includes a chromosome 18 with partial deletion of the long arm, and partial duplication of the short. The recombination risk is evaluated at 5%. The eventuality of deleterious effects of pericentric inversions is discussed.

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References

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Correspondence to F. Bajolle.

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Teyssier, J.R., Bajolle, F. Duplication-deficiency of chromosome 18, resulting from recombination of a paternal pericentric inversion, with a note for genetic counselling. Hum Genet 53, 195–200 (1980). https://doi.org/10.1007/BF00273495

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Keywords

  • Internal Medicine
  • Metabolic Disease
  • Deleterious Effect
  • Genetic Counselling
  • Pericentric Inversion