Molecular and cytogenetic characterization of an azoospermic male with a de-novo Y;14 translocation and alternate centromere inactivation

A. L. Buonadonna, F. Cariola, E. Caroppo, A. Di Carlo, P. Fiorente, M. C. Valenzano, G. D'Amato, M. Gentile

Research output: Contribution to journalArticle

19 Citations (Scopus)

Abstract

Background: Y-autosome (Y/A) translocations have been reported in association with male infertility. Different hypotheses have been made as to correlations between Y/A translocations and spermatogenetic disturbances. We describe an azoospermic patient with a de-novo Y;14 translocation: 45,X,dic(Y;14)(q12;p11). Methods and results: Cytogenetic, fluorescent in-situ hybridization (FISH) and molecular studies have been performed. A 14/22 (D14Z1/D22Z1) centromere and a Y centromere (DYZ1) probe both showed a signal on the translocation chromosome, confirming its dicentricity. Each copy of the translocation chromosome had only one primary constriction, with inactivation of the Y centromere in most (90%) of the cells. The 14 centromere was inactive in the remaining cells (10%). FISH and molecular deletion mapping analysis allowed acute assignment of the Yq breakpoint to the junction of euchromatin and heterochromatin (Yq12), distal to the AZF gene location (Yq11). Conclusions: This study supports the hypothesis that in Y/A translocations infertility might be related to meiotic disturbances with spermatogenetic arrest. In addition, sex chromosome molecular investigations, performed on single spermatids, suggest a highly increased risk of producing chromosomally abnormal embryos.

Original languageEnglish
Pages (from-to)564-569
Number of pages6
JournalHuman Reproduction
Volume17
Issue number3
Publication statusPublished - 2002

Fingerprint

Centromere
Cytogenetics
Fluorescence In Situ Hybridization
Chromosomes
Euchromatin
Sex Chromosomes
Spermatids
Heterochromatin
Male Infertility
Constriction
Infertility
Embryonic Structures
Genes

Keywords

  • Alternate centromere inactivation
  • Male infertility
  • Y-autosome translocation

ASJC Scopus subject areas

  • Physiology
  • Developmental Biology
  • Obstetrics and Gynaecology
  • Reproductive Medicine

Cite this

Buonadonna, A. L., Cariola, F., Caroppo, E., Di Carlo, A., Fiorente, P., Valenzano, M. C., ... Gentile, M. (2002). Molecular and cytogenetic characterization of an azoospermic male with a de-novo Y;14 translocation and alternate centromere inactivation. Human Reproduction, 17(3), 564-569.

Molecular and cytogenetic characterization of an azoospermic male with a de-novo Y;14 translocation and alternate centromere inactivation. / Buonadonna, A. L.; Cariola, F.; Caroppo, E.; Di Carlo, A.; Fiorente, P.; Valenzano, M. C.; D'Amato, G.; Gentile, M.

In: Human Reproduction, Vol. 17, No. 3, 2002, p. 564-569.

Research output: Contribution to journalArticle

Buonadonna, AL, Cariola, F, Caroppo, E, Di Carlo, A, Fiorente, P, Valenzano, MC, D'Amato, G & Gentile, M 2002, 'Molecular and cytogenetic characterization of an azoospermic male with a de-novo Y;14 translocation and alternate centromere inactivation', Human Reproduction, vol. 17, no. 3, pp. 564-569.
Buonadonna AL, Cariola F, Caroppo E, Di Carlo A, Fiorente P, Valenzano MC et al. Molecular and cytogenetic characterization of an azoospermic male with a de-novo Y;14 translocation and alternate centromere inactivation. Human Reproduction. 2002;17(3):564-569.
Buonadonna, A. L. ; Cariola, F. ; Caroppo, E. ; Di Carlo, A. ; Fiorente, P. ; Valenzano, M. C. ; D'Amato, G. ; Gentile, M. / Molecular and cytogenetic characterization of an azoospermic male with a de-novo Y;14 translocation and alternate centromere inactivation. In: Human Reproduction. 2002 ; Vol. 17, No. 3. pp. 564-569.
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AU - Cariola, F.

AU - Caroppo, E.

AU - Di Carlo, A.

AU - Fiorente, P.

AU - Valenzano, M. C.

AU - D'Amato, G.

AU - Gentile, M.

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AB - Background: Y-autosome (Y/A) translocations have been reported in association with male infertility. Different hypotheses have been made as to correlations between Y/A translocations and spermatogenetic disturbances. We describe an azoospermic patient with a de-novo Y;14 translocation: 45,X,dic(Y;14)(q12;p11). Methods and results: Cytogenetic, fluorescent in-situ hybridization (FISH) and molecular studies have been performed. A 14/22 (D14Z1/D22Z1) centromere and a Y centromere (DYZ1) probe both showed a signal on the translocation chromosome, confirming its dicentricity. Each copy of the translocation chromosome had only one primary constriction, with inactivation of the Y centromere in most (90%) of the cells. The 14 centromere was inactive in the remaining cells (10%). FISH and molecular deletion mapping analysis allowed acute assignment of the Yq breakpoint to the junction of euchromatin and heterochromatin (Yq12), distal to the AZF gene location (Yq11). Conclusions: This study supports the hypothesis that in Y/A translocations infertility might be related to meiotic disturbances with spermatogenetic arrest. In addition, sex chromosome molecular investigations, performed on single spermatids, suggest a highly increased risk of producing chromosomally abnormal embryos.

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