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Human Genetics

, Volume 102, Issue 5, pp 566–570 | Cite as

A quarter of men with idiopathic oligo-azoospermia display chromosomal abnormalities and microdeletions of different types in interval 6 of Yq11

  • Liborio Stuppia
  • Valentina Gatta
  • Giuseppe Calabrese
  • Paolo Guanciali Franchi
  • Elisena Morizio
  • Cristina Bombieri
  • Rita Mingarelli
  • Vincenzo Sforza
  • Giovanni Frajese
  • Raffaele Tenaglia
  • G. Palka
Original investigation

Abstract

Cytogenetic investigations and molecular analysis of the Y chromosome by the polymerase chain reaction amplification of sequence-tagged sites (STS-PCR) technique were performed in 126 patients affected by idiopathic oligo-azoospermia following accurate selection of cases. Seventeen patients evidenced an abnormal karyotype. Fourteen patients with a normal karyotype had microdeletions of the Y chromosome within interval 6. In azo-ospermic patients microdeletions were scattered along different subintervals, while in oligozoospermic patients they were clustered in subinterval 6E. The size of the deletion was not apparently related to the severity of the disease. These results suggest that cytogenetic analysis and the STS-PCR technique can detect a genetic cause of infertility in about one-quarter of patients with idiopathic oligo-azoospermia.

Keywords

Polymerase Chain Reaction Infertility Molecular Analysis Polymerase Chain Reaction Amplification Chromosomal Abnormality 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Springer-Verlag Berlin Heidelberg 1998

Authors and Affiliations

  • Liborio Stuppia
    • 1
  • Valentina Gatta
    • 1
  • Giuseppe Calabrese
    • 1
  • Paolo Guanciali Franchi
    • 1
  • Elisena Morizio
    • 1
  • Cristina Bombieri
    • 2
  • Rita Mingarelli
    • 3
  • Vincenzo Sforza
    • 4
  • Giovanni Frajese
    • 4
  • Raffaele Tenaglia
    • 5
  • G. Palka
    • 1
  1. 1.Dipartimento di Scienze Biomediche, Sezione di Genetica Medica, Università“G. D’Annunzio”, Chieti, ItalyIT
  2. 2.Istituto di Biologia e Genetica, Università di Verona, ItalyIT
  3. 3.Istituto CSS-Mendel, Rome, ItalyIT
  4. 4.Cattedra di Endocrinologia, Dipartimento di Medicina Interna, Università di Tor Vergata, Rome, ItalyIT
  5. 5.Cattedra di Urologia, Università“G. D’Annunzio”, Chieti, ItalyIT

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