Mosaic ring Y chromosome in two normal healthy men with azoospermia

Veronica Bertini, Domenico Canale, Maria Patrizia Bicocchi, Paolo Simi, Angelo Valetto

Research output: Contribution to journalArticle

15 Citations (Scopus)

Abstract

Objective: To better define by molecular and cytogenetic techniques ring Y chromosomes detected in 2 infertile men. Design: Case report. Setting: Molecular genetics/cytogenetics unit in a university hospital. Patient(s): Two infertile men with azoospermia, presenting a normal male phenotype with complete masculinization. Intervention(s): Karyotype and genetic counseling. Main Outcome Measure(s): Metaphases were studied by standard G- and Q-banding; fluorescent in situ hybridization and PCR were performed to analyze specific Y chromosome regions. Result(s): Chromosomal analysis detected a mosaicism with a Y chromosome ring cell line in 92% (patient 1) and 95% (patient 2) of the metaphases, coexisting with a 45,X cell line in the remaining metaphases. In patient 1, PCR analysis showed the presence of AZFa region and a partial deletion of AZFb region; AZFc region was deleted. In patient 2 all three AZF regions were deleted. Conclusion(s): A 45,X/46,X,r(Y) mosaicism can be detected not only in patients with Ullrich-Turner syndrome and in patients with various degrees of genital ambiguity but also in men presenting a normal phenotype. Their azoospermia can be explained by partial or total deletion of AZF regions.

Original languageEnglish
JournalFertility and Sterility
Volume84
Issue number6
DOIs
Publication statusPublished - Dec 2005

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Ring Chromosomes
Azoospermia
Y Chromosome
Metaphase
Mosaicism
Phenotype
Disorders of Sex Development
Cell Line
Polymerase Chain Reaction
Turner Syndrome
Cytogenetic Analysis
Genetic Counseling
Fluorescence In Situ Hybridization
Karyotype
Cytogenetics
Molecular Biology
Outcome Assessment (Health Care)

Keywords

  • AZF regions
  • Azoospermia
  • FISH
  • Infertile male
  • Ring Y chromosome

ASJC Scopus subject areas

  • Obstetrics and Gynaecology

Cite this

Mosaic ring Y chromosome in two normal healthy men with azoospermia. / Bertini, Veronica; Canale, Domenico; Bicocchi, Maria Patrizia; Simi, Paolo; Valetto, Angelo.

In: Fertility and Sterility, Vol. 84, No. 6, 12.2005.

Research output: Contribution to journalArticle

Bertini, Veronica ; Canale, Domenico ; Bicocchi, Maria Patrizia ; Simi, Paolo ; Valetto, Angelo. / Mosaic ring Y chromosome in two normal healthy men with azoospermia. In: Fertility and Sterility. 2005 ; Vol. 84, No. 6.
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