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Infertility associated with two accessory bisatellited chromosomes

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Summary

Two extra bisatellited chromosome identified as inv dup (15) (pter→q11.2::q11.2→pter) were found in an oligoasthenospermic male. Analysis of Ag-staining in the proband and in one fertile brother with a normal karyotype revealed that nucleolar organizer region (NOR) activity was significantly increased in the patient. The frequency of satellite associations was also significantly higher in the index case, but no correlation was found between NOR activity and acrocentric associations. These results suggest that extra NOR activity and the elevated frequency of satellite associations could predispose to gametogenic impairment.

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References

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Correspondence to M. A. Martín-Lucas.

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Martín-Lucas, M.A., Pérez-Castillo, A. & Abrisqueta, J.A. Infertility associated with two accessory bisatellited chromosomes. Hum Genet 73, 133–136 (1986). https://doi.org/10.1007/BF00291603

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Keywords

  • Internal Medicine
  • Metabolic Disease
  • Infertility
  • Index Case
  • Organizer Region