Molecular and cytogenetic characterization of a structural rearrangement of the Y chromosome in an azoospermic man

Angelo Valetto, Veronica Bertini, Erika Rapalini, Fulvia Baldinotti, Daniela Di Martino, Paolo Simi

Research output: Contribution to journalArticle

Abstract

Objective To better define an abnormal karyotype found in a male with primary infertility. Design Case report. Setting Molecular and cytogenetics unit in a university-affiliated hospital. Patient(s) A 41-year-old, azoospermic, but otherwise healthy male. Intervention(s) Lymphocytic karyotype and genetic counseling. Main outcome measure(s) Metaphases were studied by standard G- and Q-banding, followed by fluorescence in situ hybridization (FISH) and polymerase chain reaction to analyze specific Y chromosome regions. Result(s) Chromosomal analysis and FISH allowed us to define the propositus's karyotype as 45,X/46,X,idic(Yp)/46,XY (71%, 26%, and 3% of analyzed metaphases, respectively). Molecular analysis of azoospermic factor (AZF) regions showed deletion of AZFb and AZFc. Conclusion(s) A 45,X/46,X,idic(Yp) mosaicism is associated with a very broad spectrum of phenotypes, including patients with Ullrich-Turner syndrome, patients with various degrees of genital ambiguity, or normal males. In the presence of a normal masculinization in otherwise healthy males azoospermia is a distinct feature that can be explained by partial deletion of AZF regions.

Original languageEnglish
Pages (from-to)1388-1390
Number of pages3
JournalFertility and Sterility
Volume81
Issue number5
DOIs
Publication statusPublished - May 2004

Keywords

  • AZF regions
  • azoospermia
  • FISH
  • idicY(p)
  • infertile male
  • Karyotype
  • Y chromosome

ASJC Scopus subject areas

  • Obstetrics and Gynaecology

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